Teste Moleculare (Ordonate in functie de afectiune)  

Analiza moleculara include analiza tuturor protein-coding sequences cu exceptia cazurilor specificate in coloana comentariilor.

Preturile testelor sint in Euro, dar pot fi convertite in lei la cursul valutar al zilei.

Daca nu gasiti boala (sau gena) cara va intereseaza in lista cu ordinea alfabetica puteti cauta intreg tabelul cu Ctrl-F:

1. Tineti apasat pe tasta Ctrl si apoi apasati pe tasta F
2. Scrieti numele bolii (sau genei) care va intereseaza
3. Daca boala (gena) sint gasite vor apare in tabel cu negru

Informaţiile privind mutatiile si structura genomica a genelor pot fi gasite dind click pe Informatii privind mutatiilen.

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#

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
11-@BETA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      
11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2   See CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY      

17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY
» PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
» POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
» 17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS

 264300

HSD17B3 (17-@BETA HYDROXYSTEROID DEHYDROGENASE 3, ESTRADIOL 17-BETA-DEHYDROGENASE,EDH17B3)

 605573   1000
17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS   See 17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY      
17q21.31 MICRODELETION SYNDROME . 

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Deletions 350
18-@HYDROXYLASE DEFICIENCY   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
21-ALPHA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1      
22q11.2 DELETION SYNDROME . See DIGEORGE SYNDROME, DGS .    
2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA   See ALPHA-METHYLACETOACETIC ACIDURIA      

2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

300438

HADH2 (HYDROXYACYL-CoA DEHYDROGENASE TYPE 2, AMYLOID BETA-BINDING POLYPEPTIDE, ERAB, 2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE)

300256

   600
2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD		   See 2-ALPHA-METHYLBUTYRYLGLYCINURIA      

2-ALPHA-METHYLBUTYRYLGLYCINURIA
» 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD

600301

ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)

600301
 
 900
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
» HADH DEFICIENCY
» SCHAD DEFICIENCY		 231530 HADH (3-@HYDROXYACYL-CoA DEHYDROGENASE, HADSC, SCHAD) 601609    1200
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 1		 210200 MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCA) 609010 MCCC1 and MCCC2 1200
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2		 210210 MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB)  609014 MCCC1 and MCCC2 1200

3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE I
» 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY
» 3-ALPHA-MG-CoA-HYDRATASE DEFICIENCY
» MGA, TYPE 1

250950

AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)

600529

.

 850
3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY   See 3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1      
  

 

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A

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
AADC DEFICIENCY   See AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY      

AARSKOG SYNDROME
» FACIODIGITOGENITAL SYNDROME
FGD1
 
 1500
AASA DEHYDROGENASE DEFICIENCY   See EPILEPSY, PYRIDOXINE-DEPENDENT, EPD      
ABCD SYNDROME
» ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS		 600501 EDNRB (ENDOTHELIN RECEPTOR, TYPE B) 131244   450
ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
 200100 MTP 157147 .  1670
ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE   See HYPOBETALIPOPROTEINEMIA, FAMILIAL      
AB VARIANT GM2-GANGLIOSIDOSIS   See TAY-SACHS DISEASE, AB VARIANT      
ACAD8 DEFICIENCY .  See ISOBUTYRYL GLYCINURIA      
ACAMPOMELIC CAMPOMELIC DYSPLASIA . See CAMPOMELIC DYSPLASIA      
ACANTHOCYTOSIS
.
 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   950
See ABETALIPOPROTEINEMIA      
ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA . See HYPOBETALIPOPROTEINEMIA, FAMILIAL      
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY		 115500 CAT (CATALASE) 115500   1500
ACATALASIA   See ACATALASEMIA      
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C      

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME

231550

AAAS (ALADIN, ADRACALIN)

 605378   1650
ACHALASIA-ALACRIMA SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ACHONDROGENESIS, BRAZILIAN TYPE
.
 
 
  
ACHONDROGENESIS, FRACCARO TYPE    See ACHONDROGENESIS TYPE 1B      
ACHONDROGENESIS TYPE 1B
» ACHONDROGENESIS, FRACCARO TYPE 		 600972 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
ACHONDROGENESIS, TYPE 2
COL2A1
 
 1250
ACHONDROPLASIA
FGFR3
2 Mutations:
G380R, G375C
 350
ACHROMATOPSIA, INCOMPLETE (X-LINKED)   See CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1      
ACID ALPHA-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2      
ACID MALTASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2      
ACOUSTIC NEURINOMA . See NEUROFIBROMATOSIS TYPE 2, NF2 .    
ACOUSTIC SCHWANNOMAS, BILATERAL . See NEUROFIBROMATOSIS TYPE 2, NF2 .    

ACROCALLOSAL SYNDROME
» SCHINZEL ACROCALLOSAL SYNDROME

200990

 GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) 165240  Whole Gene or Deletions Whole Gene: 1700
Deletions: 350

ACROCAPITOFEMORAL DYSPLASIA, ACFD

607778

IHH (INDIAN HEDGEHOG)

600726

.

 450

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
» ADULT SYNDROME
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE		 101900 ATP2A2 (ATP2B, SERCA2) 108740   2200
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)
 
 360
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
» ST. HELENA DYSPLASIA		 602875 NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) 108961   250
ACRORENOOCULAR SYNDROME   See DUANE-RADIAL RAY SYNDROME      
ACTH DEFICIENCY 201400

TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY)

 604614   1000
ACTH RESISTANCE   See GLUCOCORTICOID DEFICIENCY 1      
ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ACTIN MYOPATHY
ACTA1 (ACTIN)
 
 750
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY 201475

ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)

609575  . 600
ADCA
.
 
 
  

ADDISON DISEASE (X-LINKED)
» ADRENAL HYPOPLASIA, CONGENITAL
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM
DAX1  (NROB1)
 
 260
ADDISONIAN-ACHALASIA SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ADENOCARCINOMA OF LUNG, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   1000
ADENOMATOUS POLYPOSIS COLI
.
 
 
  
ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM		 103050 ADSL (ADENYLOSUCCINATE LYASE) 103050 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes 820
ADHALINOPATHY, PRIMARY . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . . .
ADRENAL HYPOPLASIA, CONGENITAL
.
 
 
  
ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY		   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      

ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1
» 21-ALPHA-HYDROXYLASE DEFICIENCY
» CYP21 DEFICIENCY

201910

 CYP21A2 201910

Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg

 Whole Gene and MLPA: 800
6 most common mutations: 400
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY		 202010 CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, P450C11) 610613  Whole Gene or CYP11B1/
CYP11B2 fusion		 Whole Gene: 750
Fusion: 300
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY		 202010 CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)		 124080    700
ADRENAL HYPERPLASIA, HYPERTENSIVE FORM   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      
ADRENAL UNRESPONSIVENESS TO ACTH   See GLUCOCORTICOID DEFICIENCY 1      
ADRENOLEUKODYSTROPHY, ALD 300100 ABCD1 300371   800
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD 202370 PEX2, PEX10, PEX12 and PEX26    PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) 1300

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

 602136 Exons 13 and 15 600
ADRENOMYELONEUROPATHY, AMN   See ADRENOLEUKODYSTROPHY, ALD      
ADULT LACTASE DEFICIENCY   See LACTOSE INTOLERANCE      
ADULT POLYCYSTIC KIDNEYS, PKD, ADPKD
» POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE
 173900 PKD1 (POLYCYSTIN 1)
AND
PKD2 (POLYCYSTIN 2)		 601313
AND
173910 		2 Genes 3300
ADULT SYNDROME
.
 
 
  

AFIBRINOGENEMIA
» DYSFIBRINOGENEMIA
FGA (FIBRINOGEN ALPHA)
 
 550
FGB (FIBRINOGEN BETA)
 
 700
FGG (FIBRINOGEN GAMMA)
 
 800
AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE)

601495

 IGHM (IMMUNOGLOBULIN MU) 147020    800

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA (X-LINKED)
BTK (BRUTON TYROSINE KINASE, ATK, BPK)
 
 550

AICARDI-GOUTIERES SYNDROME 1
» ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
» CREE ENCEPHALITIS
» PSEUDO-TORCH SYNDROME
» PSEUDOTOXOPLASMOSIS SYNDROME

 225750

TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP)

 606605   600
AICARDI-GOUTIERES SYNDROME 2 610181 RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) 610326   1200
AICARDI-GOUTIERES SYNDROME 3 610329 RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) 610330   600
AICARDI-GOUTIERES SYNDROME 4 610333 RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) 606034   800
ALACRIMA-ACHALASIA-ADDISONIANISM   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ALAGILLE SYNDROME
JAG1 (JAGGED1)
 
 2900
ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1      
AL-AWADI/RAAS-ROTHSCHILD SYNDROME   See ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY      
ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)   See OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2      
ALBERS-SCHONBERG DISEASE (AUTOSOMAL RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .    
ALBINISM ALBINISM PANEL:
- OCA1
- OCA2
- OCA3
- OCA4
- OA1		 .
606933
203200
203290
606574
300500		   1700
ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS   ABCD SYNDROME      

ALBINISM, OCULAR, TYPE 1, OA1
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM

  300500 OA1

300500 

   550
ALBINISM, RUFOUS OCULOCUTANEOUS, ROCA 278400 TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) 115501   700
ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)      
ALBRIGHT HEREDITARY OSTEODYSTROPHY
» PSEUDOHYPOPARATHYROIDISM, TYPE 1A
» PSEUDOHYPOPARATHYROIDISM, TYPE 1C
» PSEUDOPSEUDOHYPOPARATHYROIDISM		 103580 GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320   790
ALBRIGHT SYNDROME . See MCCUNE-ALBRIGHT SYNDROME .    
ALDOLASE B DEFICIENCY   See FRUCTOSE INTOLERANCE      
ALDOSTERONE DEFICIENCY 1   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
ALEXANDER DISEASE 203450

GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN)

137780   1100
ALLAN-HERNDON-DUDLEY SYNDROME
» MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
» MENTAL RETARDATION WITH HYPOTONIA (X-LINKED)		 300523 SLC16A2 (SOLUTE CARRIER FAMILY 16, MEMBER 2; MONOCARBOXYLATE TRANSPORTER 8; MCT8) 300095   1100
ALLGROVE SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ALOPECIA UNIVERSALIS CONGENITA
» ATRICHIA, GENERALIZED		 203655 HR (HAIRLESS, MOUSE, HOMOLOG OF) 602302   1800
ALPHA-1,4-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2      
ALPHA HAEMOGLOBINOPATHIA
» ALPHA THALASSEMIA
 141800 HBA 1 and HBA 2 (ALPHA GLOBIN)
 141800 Whole Gene (both HBA1 and HBA2) or Deletion Analysis (MLPA) Whole Gene: 400
Deletion Analysis: 300
ALPHA-L-FUCOSIDASE DEFICIENCY   See FUCOSIDOSIS      
ALPHA-METHYLACETOACETIC ACIDURIA
» BETA-KETOTHIOLASE DEFICIENCY
» MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
» 2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA		 254210 ACAT1 (ACETYL-CoA ACETYLTRANSFERASE 1; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL) 607809   1100
ALPHA THALASSEMIA
 . See ALPHA HAEMOGLOBINOPATHIA . . .
ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
 301040 ATRX (XNP) 300032 Blood in RNA PAX tubes 1500

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
» NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

 203700 POLG (POLYMERASE, DNA, GAMMA) 174763 . 1200
ALPERS-HUTTENLOCHER SYNDROME   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
ALPERS SYNDROME   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL RECESSIVE)      
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 COL4A3  120070  .   1550
COL4A4  120131 .   1550
ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS   See ALPORT SYNDROME (X-LINKED)      
ALPORT SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS

301050

 COL4A5 303630 .   1550
ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA   See FECHTNER SYNDROME      
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA   See EPSTEIN SYNDROME      
ALSTROM SYNDROME, ALMS 203800 ALMS1 606844  Exons 10, 16, and part of Exon 8 560
ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1
APP

Whole Gene, Deletion-Duplication or Exons 16 and 17 harbouring the majority of mutations

 Whole Gene: 700
Deletion-Duplication: 600
Exons 16 and 17: 400

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3

607822

PSEN1 (PRESENILIN 1, PS1)

104311

   400

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4

606889

PSEN2 (PRESENILIN 2, PS2)

600759

   400
AMAUROSIS CONGENITA OF LEBER 3   See LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3      
AMYLO-1,6-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3      

AMYLOID POLYNEUROPATHY
» AMYLOIDOSIS 1
TTR  (TRANSTHYRETIN)
Exons 2-4
 400
AMYLOIDOSIS 1
 
 
  
AMYLOIDOSIS 6   See CEREBRAL AMYLOID ANGIOPATHY      
AMYLOIDOSIS 8   See AMYLOIDOSIS, FAMILIAL VISCERAL      
AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY .. See CEREBRAL AMYLOID ANGIOPATHY      
AMYLOIDOSIS, CEREBROARTERIAL
.
 
 
  
AMYLOIDOSIS, FAMILIAL RENAL   See AMYLOIDOSIS, FAMILIAL VISCERAL      
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES		 602433 SETX (SENATAXIN) 608465   1000

AMYOTROPHIC LATERAL SCLEROSIS, ALS
» LOU GEHRIG'S DISEASE
SOD1
 
 550
AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1 105400

ANG (ANGIOGENIN, RNASE5)

 105850   450

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
» ANDERSEN-TAWIL SYNDROME

 170390 KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) 600681   500
ANDERSEN SYNDROME
LONG QT SYNDROME 7, LQT7		   See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS      
ANDERSEN-TAWIL SYNDROME   See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS      
ANDROGEN INSENSITIVITY SYNDROME, AIS
AR (ANDROGEN RECEPTOR)
 
 495
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1		 224120 CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
 607465    1300
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310

ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)

 300135 . 1200
ANGELMAN-LIKE SYNDROME (X-LINKED)   See MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE      
ANGELMAN SYNDROME, AS
UBE3A
Whole Gene or
IC Deletion or
Methylation
 Whole Gene: 990
IC Deletion: 400 Methylation: 280
ANGELMAN SYNDROME, ATYPICAL 105830 CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)     1490

ANGIOEDEMA
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA 
C1NH (C1 ESTERASE INHIBITOR, SERPING 1)
 
 1000
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC 611773 COL4A1 120130 Whole Gene or Deletion-Duplication Whole Gene: 3500
Deletion-Duplication: 800

ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3
EDAR (ECTODYSPLASIN 1)
 
 1400
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) 606603   1600
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE   See DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE      
ANIRIDIA, TYPE 2, AN2
PAX6 (PAIRED BOX GENE 6)

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 1500
MLPA: 600

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
ANOPHTHALMIA, ANOP3 206900 SOX2 (SRY-BOX 2)
 184429   600
ANOSMIC HYPOGONADISM   See KALLMANN SYNDROME, TYPE 1, KAL1      
ANTENATAL BARTTER SYNDROME, TYPE 2
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2		 241200 KCNJ1 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) 600359   375
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS   FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) 601090 Whole Gene Sequencing or Deletion-Duplication Whole Gene: 550
Deletion-Duplication: 500
ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3		 107300 AT3 (SERPINC1)

107300

   460
ANTITRYPSINE DEFICIENCY, AAT
PI (ANTITRYPSINE, PROTEASE INHIBITOR)
Alleles M, S and Z
 210
ANTOPOL DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES   See TOWNES-BROCKS SYNDROME      
AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS   See AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4      

AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS

 132900 MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) 160745   1300
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 611788 ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) 102620   880
AO TYPE 2   See ATELOSTEOGENESIS TYPE 2      
APERT SYNDROME
» CRANIOSYNOSTOSIS, APERT SYNDROME
FGFR2
2 Mutations: S252W, P253R
 350
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA      
APLASTIC ANEMIA
.
TERC (TELOMERASE RNA COMPONENT)
 
 400
APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE   See HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B      
APOLIPOPROTEIN B DEFICIENCY   See ABETALIPOPROTEINEMIA      
APOLIPOPROTEIN C2 DEFICIENCY   See HYPERCHYLOMICRONEMIA      
APOLIPOPROTEIN E DEFICIENCY   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
APPARENT MINERALOCORTICOID EXCESS   See CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY      
APRT DEFICIENCY 102600 APRT (ADENINE PHOSPHORIBOSYLTRANSFERASE) 102600   400
ARGININOSUCCINASE DEFICIENCY   See ARGININOSUCCINIC ACIDURIA      
ARGININOSUCCINATE LYASE DEFICIENCY   See ARGININOSUCCINIC ACIDURIA      
ARGININOSUCCINATE SYNTHETASE DEFICIENCY   See CITRULLINEMIA, CLASSIC      
ARGININOSUCCINIC ACIDURIA
» ARGININOSUCCINASE DEFICIENCY
» ARGININOSUCCINATE LYASE DEFICIENCY
» ASL DEFICIENCY		 207900 ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINASE) 608310   1400

AROMATASE DEFICIENCY
» PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY

107910

 CYP19A1 (AROMATASE) 107910 Sequence analysis of exons 9 and 10, including the following common mutations:
Arg365Gln
Val370Met
Arg375Cys
Arg435Cys
Cys437Tyr
Arg457Term		 160
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
» AADC DEFICIENCY
» DOPA DECARBOXYLASE DEFICIENCY		 608643 DDC (DOPA DECARBOXYLASE; AROMATIC L-AMINO ACID DECARBOXYLASE; AADC)

107930

   1110
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE2, ARVC2   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2, ARVD2      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE8, ARVC8   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 9, ARVC9   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9, ARVD9      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11, ARVC11   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11      
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL PKP2, DSP, DSG2, DSC2 PANEL     1600
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2, ARVD2
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 2, ARVC2		 600996 RYR2 (RYANODINE RECEPTOR 2) 180902   Upon Request
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 8, ARVC8		 607450 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 9, ARVD9
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 9, ARVC 9

 609040

PKP2 (PLAKOPHILIN 2)

 602861 See also PKP2, DSP, DSG2, DSC2 PANEL 1100
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10		 610193 DSG2 (DESMOGLEIN 2) 125671 See also PKP2, DSP, DSG2, DSC2 PANEL 900
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11, ARVC11

610476

 DSC2 (DESMOCOLLIN 2, DESMOSOMAL GLYCOPROTEIN 2/3) 125645 See also PKP2, DSP, DSG2, DSC2 PANEL 950

ARTERIAL TORTUOSITY SYNDROME, ATS

 208050 SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE TRANSPORTER 10, GLUT10) 606145   800

ARTHROGRYPOSIS, DISTAL, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1

 108120

TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN)

 190990   1300

ARTHROGRYPOSIS, DISTAL, TYPE 2A
» FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY

 193700

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

 160720 All 39 Exons or Exons 5, 14, 15, 17, 21 or Exons 17 and 21 All 39 Exons: 5500
Exons 5, 14, 15, 17, 21: 1300
Exons 17 and 21: 650

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

  601680

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

 160720 All 39 Exons or Exons 5, 14, 15, 17, 21 or Exons 17 and 21 All 39 Exons: 5500
Exons 5, 14, 15, 17, 21: 1300
Exons 17 and 21: 650

TNNI2 (TROPONIN 1, FAST-TWITCH SKELETAL MUSCLE ISOFORM)

 191043   1100

TNNT3 (TROPONIN T3, FAST SKELETAL)

 600692   2500
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1   See ARTHROGRYPOSIS, DISTAL, TYPE 1      
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES   See ARTHROGRYPOSIS, DISTAL, TYPE 2B      
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B   See ARTHROGRYPOSIS, DISTAL, TYPE 2B      
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA   See FETAL AKINESIA DEFORMATION SEQUENCE      

ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
» SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
»  PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

 208230

WISP3 (WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3)

 603400   400
ARYLSULFATASE A DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY      
ARYLSULFATASE B DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6      
ASL DEFICIENCY   See ARGININOSUCCINIC ACIDURIA      
ASPERGER SYNDROME (X-LINKED) 300494 NLGN3 (NEUROLIGIN 3) 300336 . 880
NLGN4 (NEUROLIGIN 4) . . 950
NLGN3 AND NLGN4 . . 1600
ASTHMA

 

 FLG (FILAGGRIN, PROFILAGGRIN)
 135940  7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X or
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X )		 7 Mutations: 800
2 Mutations: 250
ASYMMETRIC SEPTAL HYPERTROPHY   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL      
ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY   TTPA (TOCOPHEROL TRANSFER PROTEIN, ALPHA, TTP1) 600415   700
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
» ATAXIA-OCULOMOTOR APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE SYNDROME
» CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA		 208920 APTX (APRATAXIN)
 606350    1000
ATAXIA, EPISODIC, WITH MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1      
ATAXIA, EPISODIC, WITH NYSTAGMUS   See EPISODIC ATAXIA, TYPE 2, EA2      
ATAXIA, FRIEDREICH
.
 
 
  
ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM   See PYRUVATE DECARBOXYLASE DEFICIENCY      
ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCY   See PYRUVATE DECARBOXYLASE DEFICIENCY      
ATAXIA-OCULOMOTOR APRAXIA 1   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA-OCULOMOTOR APRAXIA 2   See SPINOCEREBELLAR ATAXIA (AUTOSOMAL RECESSIVE), 1      
ATAXIA-OCULOMOTOR APRAXIA SYNDROME   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA, SPINOCEREBELLAR
.
 
 
  

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

ATM

607585

.

 1200
ATAXIA-TELANGIECTASIA-LIKE SYNDROME   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA WITH LACTIC ACIDOSIS I
LACTIC ACIDEMIA, THIAMINE-RESPONSIVE		   See PYRUVATE DECARBOXYLASE DEFICIENCY      
ATELIOTIC DWARFISM WITH HYPOGONADISM   See PITUITARY DWARFISM 3      
ATELOSTEOGENESIS, TYPE 1
» GIANT CELL CHONDRODYSPLASIA
» SPONDYLOHUMEROFEMORAL HYPOPLASIA		 108720 FLNB (FILAMIN B) 663381   1900
ATELOSTEOGENESIS, TYPE 2
» AO TYPE 2
» DE LA CHAPELLE DYSPLASIA
»  NEONATAL OSSEOUS DYSPLASIA 1		 256050 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
ATELOSTEOGENESIS, TYPE 3 108721 FLNB (FILAMIN B) 663381   1900
ATOPIC DERMATITIS

 

 FLG (FILAGGRIN, PROFILAGGRIN)
 135940  7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X or
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X )		 7 Mutations: 800
2 Mutations: 250
ATRIAL SEPTAL DEFECT, TYPE 2 607941 GATA4 (GATA-BINDING PROTEIN 4) 600576   1250
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

 600584   450
ATRICHIA, GENERALIZED   See ALOPECIA UNIVERSALIS CONGENITA      
ATRICHIA WITH PAPULAR LESIONS
» PAPULAR ATRICHIA		 209500 HR (HAIRLESS, MOUSE, HOMOLOG OF) 602302   1800
ATRIOVENTRICULAR BLOCK, IDIOPATHIC SECOND-DEGREE . 

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

 600584   450
ATROPHIA BULBORUM HEREDITARIA   See NORRIE DISEASE      
ATR-X SYNDROME   See ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)      
ATTENUATED POLYPOSIS COLI
.
 
 
  

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

  209950

IFNGR1 and IFNGR2

     1200

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 		 107470   800

IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2)

147569   800
AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1   See DEAFNESS, DFNB9      
AUTISM (X-LINKED)
 300425 NLGN3 (NEUROLIGIN 3)
 300336 . 880
NLGN4 (NEUROLIGIN 4) . . 950
NLGN3 AND NLGN4 . . 1600

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B
» CANALE-SMITH SYNDROME

  601859 CASP8 (CASPASE 8, FLICE, MCH5) 601763   1290

TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6, APT1, FAS)

134637 Exons 7-9 (Majority of Mutations)
or
Exons 1-6
or
Whole Gene 		Exons 7-9 (Majority of Mutations): 500
Exons 1-6: 700
Whole Gene: 1150
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 603909 CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) 601762   890
AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1      
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1
» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED
» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1
» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS
» POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE		 240300 AIRE (AUTOIMMUNE REGULATOR) 607358

Whole Gene

800
AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1      
AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO   See GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)      
AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
AUTOSOMAL RECESSIVE
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A / 1B		   See PITUITARY DWARFISM 1      
AXENFELD-RIEGER SYNDROME   See RIEGER SYNDROME, TYPE 1, RIEG1      

AZOSPERMIA-OLIGOSPERMIA
» SERTOLI-CELL-ONLY SYNDROME
» MALE INFERTILITY
AZFa, AZFb and AZFc (including DAZ
Deletions
 150
  

 

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BALLER-GEROLD SYNDROME
» CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
» CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME

 218600 RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 ) 603780   1600

BAMFORTH-LAZARUS SYNDROME
» HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

 241850

FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION FACTOR 2, TTF2, TITF2)

 602617   600
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME 153480 PTEN 601728

Whole Gene or Deletions

 Whole Gene: 1400
Deletions: 500
BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900 BBS1 209901    900
BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900 BBS2 606151    900
BARDET-BIEDL SYNDROME TYPE 10, BBS10 209900 BBS10 610148   1000
BARDET-BIEDL SYNDROME TYPE 12, BBS12 209900 BBS12 610683   1000
BARTH SYNDROME 302060 TAZ (TAFAZZIN) 300394   550
BARTTER SYNDROME, CLASSIC   See BARTTER SYNDROME, TYPE 3      

BARTTER SYNDROME, ANTENATAL, TYPE 1
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1
» HYPERPROSTAGLANDIN E SYNDROME 1

 601678

SLC12A1 (SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1, SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2, NKCC2)

 600839   1300
BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS   See BARTTER SYNDROME, TYPE 4      
BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
 607364 CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023   1250
BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA   See BARTTER SYNDROME, TYPE 3      
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS		 602522 BSND (BARTTIN) 606412   300
CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) 602024   1250
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023   1250

BASAL CELL NEVUS SYNDROME
» GORLIN SYNDROME

 109400 PTCH (PATCHED, PTC) 601309   1950

BASAL GANGLIA DISEASE, ADULT-ONSET
» NEUROFERRITINOPATHY

 606159 FTL (FERRITIN LIGHT CHAIN) 134790   300
BASSEN-KORNZWEIG SYNDROME   See ABETALIPOPROTEINEMIA      
BATTEN DISEASE . See CEROID LIPOFUCSINOSIS, CLN3      
BCG AND SALMONELLA INFECTION, DISSEMINATED   See ATYPICAL MYCOBACTERIOSIS, FAMILIAL      
BEALS SYNDROME   See CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA      
BEARE-STEVENSON CUTIS GYRATA
» CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA 		123790 FGFR2 176943   500

BECKER MYOTONIA

 . See MYOTONIA CONGENITA      
BECKER MUSCULAR DYSTROPHY, BMD
» MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY		 300376 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA) Whole Gene: 1850
Deletions-Duplications (MLPA): 500

BECKWITH-WIEDEMANN SYNDROME, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

 130650

CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, p57-KIP2)

 600856   1050
KCNQ1OT1 and H19 604115
and
103280  		 KCNQ1OT1 and H19 Imprinting 400
BERNARD-SOULIER SYNDROME
» GIANT PLATELET SYNDROME
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY		 231200 GP9 (GLYCOPROTEIN IX, PLATELET) 173515   200
GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, GLYCOCALICIN) 606672   350
GP1BB (GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE) 13872    250
BEST MACULAR DYSTROPHY   See MACULAR DYSTROPHY, VITELLIFORM, VMD      

BETA HAEMOGLOBINOPATHIA
» BETA THALASSEMIA

 141900 HBB (BETA GLOBIN) 141900   300
BETA-KETOTHIOLASE DEFICIENCY   See ALPHA-METHYLACETOACETIC ACIDURIA      
BETA-MANNOSIDASE DEFICIENCY   See MANNOSIDOSIS, BETA A, LYSOSOMAL      
BETA THALASSEMIA . See BETA HAEMO-GLOBINOPATHIA      
BFNC/MYOKYMIA SYNDROME   See MYOKYMIA WITH NEONATAL EPILEPSY      
BILATERAL ACOUSTIC NEUROFIBROMATOSIS . See NEUROFIBROMATOSIS TYPE 2, NF2 .    
BILATERAL PERIVENTRICULAR HETEROTOPIA   See HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)      
BIODEFECTIVE GROWTH HORMONE   See PITUITARY DWARFISM 4      

BIOTINIDASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY

 253260

BTD (BIOTINIDASE)

 609019 

8 Mutations: D444H, A171T, F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G, Detecting 60% of all BTD Mutations

 250
BIRT-HOGG-DUBE SYNDROME, BHD
» FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS		 135150 FLCN (FOLLICULIN, FLCL)
 607273   1450
BLADDER CANCER, TRANSITIONAL CELL   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES 110100 FOXL2 605597   500
BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS . See FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3 . . .

BLOCH-SULZBERGER DISEASE
» INCONTINENTIA PIGMENTI

 308300 IKBKG (NEMO) 300248 Whole Gene or 1 Mutation: Exon 4-10 Deletion Whole Gene and Common Deletion: 900
Common Deletion: 450

BLOOM SYNDROME
» (See also Molecular Screening Tests)

 210900 RECQL3 (RECQ2) 604610 1 Mutation: 6del/7ins 150
BOOMERANG DYSPLASIA 112310 FLNB (FILAMIN B) 663381   1900
BOR SYNDROME . See BRANCHIO-OTO-RENAL SYNDROME      
BORDERLINE SMEI (SMEIB)   SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene or Deletions-Duplications Whole Gene: 1820
Deletions-Duplications: 600
BO SYNDROME, TYPE 3   See BRANCHIOOTIC SYNDROME, TYPE 3      
BRACHMANN-DE LANGE SYNDROME   See CORNELIA DE LANGE SYNDROME      

BRACHYDACTYLY TYPE A1, BDA1
» FARABEE TYPE BRACHYDACTYLY

112500

IHH (INDIAN HEDGEHOG)

600726

.

 450

BRACHYDACTYLY TYPE A2, BDA2
» BRACHYMESOPHALANGY 2
» MOHR - WRIEDT TYPE BRACHYDACTYLY

112600

BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)

603248

.

 450
BRACHYDACTYLY, TYPE B, BDB 113000 ROR2 (NTRKR2) 602337 Exons 8 and 9 530

BRACHYDACTYLY, TYPE C
» BRACHYDACTYLY, HAWS TYPE

 113100 GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) 601146   360

BRACHYDACTYLY TYPE D, BDD

113200

HOXD 13 (HOMEOBOX D13)

142989

.

 510

BRACHYDACTYLY TYPE E, BDE

113300

HOXD 13 (HOMEOBOX D13)

142989

.

 510

BRACHYMESOPHALANGY 2

.

See BRACHYDACTYLY A2, BDA2

.

.

 .
BRAIN-BONE-FAT DISEASE   See PRESENILE DEMENTIA WITH BONE CYSTS      
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY		 607595 COL4A1 120130 Whole Gene or Deletion-Duplication Whole Gene: 3500
Deletion-Duplication: 800
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY   See MAPLE SYRUP URINE DISEASE      
BRANCHED-CHAIN KETOACIDURIA   See MAPLE SYRUP URINE DISEASE      
BRANCHIOOTIC SYNDROME, TYPE 3
» BO SYNDROME, TYPE 3		 608389 SIX1 601205   500
BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1 113650 EYA1 601653   600
BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2

610896

SIX5

 600963   700
BREAST AND OVARIAN CANCER . BRCA1 113705

Whole Gene (sequencing and MLPA)

 700
BRCA2 600185

Whole Gene (sequencing and MLPA) or
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)

 Whole Gene: 1000
3 Common Mutations: 400
BRCA1 and BRCA2  

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

 2 Whole Genes: 1600
MLPA: 400

BREAST CANCER, FAMILIAL

 114480 CHEK2 (CHECKPOINT KINASE 2) 604373 Whole Gene or *1100delC Whole Gene: 800
*1100delC: 400
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450
TP53 (TUMOR PROTEIN p53) 191170

Whole Gene or Exons 5-8

 Whole Gene: 350
Exons 5-8: 250
BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION   See RUBINSTEIN-TAYBI SYNDROME      
BROAD THUMB-HALLUX SYNDROME   See RUBINSTEIN-TAYBI SYNDROME      
BROCQ SYNDROME . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL      
BROWN OCULOCUTANEOUS ALBINISM, BOCA   See OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE)      
BRUCK SYNDROME, TYPE 2 609220 PLOD2 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; LYSINE HYDROXYLASE 2) 601865   2400
BRUGADA SYNDROME 601144 SCN5A 600163 See also LONG QT SYNDROME 2800
BTD DEFICIENCY   See BIOTINIDASE DEFICIENCY      
BUDD-CHIARI SYNDROME
» MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA		 600880 JAK2 (JANUS KINASE 2) 147796 Exon 12, including V617F Mutation 250
BULL'S EYE MACULAR DYSTROPHY   See MACULAR DYSTROPHY, CONCENTRIC ANNULAR      
BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY   See KINDLER SYNDROME      
BUPHTHALMOS . See GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A . . .
BUSCHKE-OLLENDORFF SYNDROME
 » DERMATOOSTEOPOIKILOSIS
» DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
» DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
» OSTEOPATHIA CONDENSANS DISSEMINATA
» OSTEOPOIKILOSIS, ISOLATED, INCLUDED		 166700 LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) 607844   800
BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM   See PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM      
BYLER DISEASE . See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 . . .
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

C

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
CACA   See CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED      
CACT DEFICIENCY   See CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY      
CADASIL . See CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKO-ENCEPHALOPATHY      

CAMPOMELIC DYSPLASIA
» ACAMPOMELIC CAMPOMELIC DYSPLASIA

 114290

SOX9 (SRY-BOX 9)

 608160   500
CAMURATI-ENGELMANN DISEASE
» DIAPHYSEAL DYSPLASIA 1		 131300 TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, BETA-1)
190180 Whole Gene or Exon 24 Whole Gene: 800
Exon 24: 400
CANALE-SMITH SYNDROME   See AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, ALPS      

CANAVAN DISEASE
» (See also Molecular Screening Tests)

 271900 ASPA (ASPARTOACYLASE) 271900 3 Mutations:
E285A, A305E, Y231X		 195
CANCER (SOMATIC MUTATIOS) .

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication Whole Gene: 1100
Deletion-Duplication: 600
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO
» CPS1 DEFICIENCY		 237300 CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) 608307   2500
CARBONIC ANHYDRASE 2 DEFICIENCY   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS      
CARDIAC MYXOMA 255960 PRKAR1A 188830   950

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
» CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY

 604377 SCO2 604272   350
CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME		 115150 BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   1000
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450

MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1)

 176872  Whole Gene or Exons 2 and 3 Whole Gene: 1200
Exons 2 and 3: 400

MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2)

 601263  Whole Gene or Exons 2 and 3 (6% of CFC cases) Whole Gene: 1200
Exons 2 and 3: 400
CARDIOMEGALIA GLYCOGENICA DIFFUSA   See GLYCOGEN STORAGE DISEASE, TYPE 2      
CARDIOMYOPATHY, DILATED, 1G, CMD1G 604145 TTN (TITIN, CONNECTIN ) 188840 Exons 212-213 380
CARDIOMYOPATHY, DILATED, TYPE 1S 160760

MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA)

 160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1 1200
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
» PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
» CARVAJAL SYNDROME		 605676 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8      
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 188840 TTN (TITIN, CONNECTIN ) 188840 Exons 212-213 380
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME 600858 PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)		 602743   650
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 115210 TNNI3 (TROPONIN I, CARDIAC) 191044  See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10      
CARMI SYNDROME   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA      

CARNEY COMPLEX, TYPE 1
» PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

 160980 PRKAR1A 188830   950

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
» CACT DEFICIENCY

 212138

SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE,
CARNITINE-ACYLCARNITINE CARRIER)

 212138  . 1200
CARNITINE DEFICIENCY, PRIMARY   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
» SYSTEMIC CARNITINE DEFICIENCY
» CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
» CARNITINE DEFICIENCY, PRIMARY
» CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
» CARNITINE UPTAKE DEFECT

 212140

SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2)

 603377  . 1200

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

 255120

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

 600528  . 1200
CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC		 600649 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET		 255110 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL		 608836 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE      
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      
CARNITINE UPTAKE DEFECT   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      
CAROLI DISEASE   See POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, ARPKD      

CARTILAGE-HAIR HYPOPLASIA
» METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE

 250250 RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) 157660   350
CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY   See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS      
CARTILAGE-HAIR HYPOPLASIA VARIANT   See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS      
CASPASE 8 DEFICIENCY 607271 CASP8 (CASPASE 8, FLICE, MCH5) 601763   1290
CATALASE DEFICIENCY   See ACATALASEMIA      
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY . PAX6 (PAIRED BOX GENE 6) 607108

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 1500
MLPA: 600
CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED 115700 CRYGD (CRYSTALLIN, GAMMA-D) 123690   460
CATARACT-DENTAL SYNDROME   See NANCE-HORAN SYNDROME      
CATARACT, PUNCTATE 123690 CRYGD (CRYSTALLIN, GAMMA-D) 123690   460
CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH   See NANCE-HORAN SYNDROME      
CATCH22 . See DIGEORGE SYNDROME, DGS .    
CATLIN MARKS   See PARIETAL FORAMINA, TYPE 1      
  See PARIETAL FORAMINA, TYPE 2      
CARVAJAL SYNDROME   See CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA      
CAVERNOUS ANGIOMA, FAMILIAL   See CEREBRAL CAVERNOUS MALFORMATIONS, CCM1      
CBAVD . See CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS      
CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED   See SPINOCEREBELLAR ATAXIA 27, SCA27      
CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE   See EPISODIC ATAXIA, TYPE 2, EA2      
CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT   See POLYMICROGYRIA, BILATERAL FRONTOPARIETAL      
CEREBELLAR HEMANGIOMA . VHL 193300

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 500
MLPA: 500
CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA		   See EPISODIC ATAXIA, TYPE 2, EA2      

CEREBRAL AMYLOID ANGIOPATHY
» AMYLOIDOSIS, CEREBROARTERIAL
» AMYLOIDOSIS 6
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY

105150 APP 104760

Whole Gene, Deletion-Duplication or Exons 16 and 17 harbouring the majority of mutations

 Whole Gene: 700
Deletion-Duplication: 600
Exons 16 and 17: 400
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL 125310 NOTCH3 600276 Whole Gene
2700
Exons 3 and 4 harboring the majority of mutations 500
CEREBRAL CAVERNOUS MALFORMATIONS, CCM .

CCM1,
CCM2 and
PDCD10

Analysis of 3 Genes Upon Request

CEREBRAL CAVERNOUS MALFORMATIONS, CCM1
» CAVERNOUS ANGIOMA, FAMILIAL
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS

 116860

CCM1 (KREV INTERACTION TRAPPED 1, KRIT1)

 604214 See also CCM1,
CCM2 and
PDCD10		 Upon Request
CEREBRAL CAVERNOUS MALFORMATIONS 2, CCM2 603284

CCM2 (CHROMOSOME 7 OPEN READING FRAME 22, C7ORF22,MALCAVERNIN,
MGC4067)

 607929 See also CCM1,
CCM2 and
PDCD10		 Upon Request
CEREBRAL CAVERNOUS MALFORMATIONS 3, CCM3 609118

PDCD10 (PROGRAMMED CELL DEATH 10, TFAR15)

 609118 See also CCM1,
CCM2 and
PDCD10		 Upon Request
CEREBRAL CHOLESTERINOSIS   See CEREBROTENDINOUS XANTHOMATOSIS, CTX      

CEREBRAL GIGANTISM
» SOTOS SYNDROME

 117550 NSD1 606681 At least 20mg DNA is needed  900
CEREBROHEPATORENAL SYNDROME   See ZELLWEGER SYNDROME      

CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS

 213700 CYP27A1 606530   1300

CEROID LIPOFUCSINOSIS, CLN1
» SANTAVUORI DISEASE

 256730 PPT1 (PALMITOYL-PROTEIN THIOESTERASE) 600722   600

CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE

 204500 CLN2 204500

Whole Gene or 2 Common Mutations: R208X and IVS5-1G>C

 Whole Gene: 900
2 Common Mutations: 350

CEROID LIPOFUCSINOSIS, CLN3
» VOGT-SPIELMEYER DISEASE
» BATTEN DISEASE

 204200 CLN3 607042

Whole Gene or Common 1kb Deletion

Whole Gene: 900
1kb Deletion: 350

CEROID LIPOFUCSINOSIS, CLN6
» CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE

601780

CLN6

606725

   630
CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE   See CEROID LIPOFUCSINOSIS, CLN6      
CETP DEFICIENCY   See CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY      
CFC SYNDROME   See CARDIOFACIOCUTANEOUS SYNDROME, CFC      

CHANARIN-DORFMAN DISEASE
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
» TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION

 275630

CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5)

 604780   950
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 118300 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication		 Whole Gene: 600 Duplication: 450
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 607678 EGR2 (EARLY GROWTH RESPONSE 2) 129010   700
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 118210 KIF1B (KINESIN FAMILY MEMBER 1B)
 605995    Pending
MFN2 (MITOFUSIN 2) 608507   800
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B, CMT2B 600882 RAB7 (RAS-ASSOCIATED PROTEIN RAB7)
 602298    900
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 605588 LMNA (LAMIN A/C) 150330   700
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D 601472 GARS (GLYCYL T RNA SYNTHETASE) 600287   2100
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E 607684 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .   600

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I

 607677 MPZ  (MYELIN PROTEN ZERO, P0) 159440 . 500

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J

 607736 MPZ  (MYELIN PROTEN ZERO, P0) 159440 . 500
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, CMT2K 607831 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS (AUTOSOMAL RECESSIVE) 607706 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1A, HMSN1A

 118220 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication		 Whole Gene: 600 Duplication: 450

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B, CMT1B
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1B, HMSN1B

 118200 MPZ (MYELIN PROTEN ZERO, P0) 159440   500
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C 601098 LITAF (LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR) 603795   400
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CMT1F 607734 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .   600
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A, CMT4A (AUTOSOMAL RECESSIVE) 214400 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C (AUTOSOMAL RECESSIVE)

 601596

SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2)

 68206   2900
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E
» CONGENITAL HYPOMYELINATING NEUROPATHY		 605253 EGR2 (EARLY GROWTH RESPONSE 2) 129010   700

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3

  145900 EGR2 (EARLY GROWTH RESPONSE 2) 129010   700

PRX (PERIAXIN)

605725

   1100
MPZ (MYELIN PROTEN ZERO, P0) 159440   500
PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene Whole Gene: 600

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, CMTDID

 607791 MPZ  (MYELIN PROTEN ZERO, P0) 159440 . 500
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE A, CMTRIA (AUTOSOMAL RECESSIVE)

608340

 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) 606482 DNM2 (DYNAMIN 2, DYN2) 602378   1550
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D
» NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE (HMSNL)		 601455 NDRG1 (NMYC DOWNSTREAM-REGULATED GENE 1; PROTEIN REGULATED BY OXYGEN 1; PROXY1) 605262   1100

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED)

 302800 GJB1 (CONNEXIN 32, CX32) 304040   500
CHARGE SYNDROME 214800

CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7)

608892   1800
CHERRY RED SPOT--MYOCLONUS SYNDROME   See NEURAMINIDASE DEFICIENCY      

CHERUBISM

118400

SH3BP2

602104

Exon 2

 300
CHILD SYNDROME
» CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
» ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
 308050 NSDHL (NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN) 300275   1000
CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION   LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER      

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME

243300

 		 ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) 603201   1200

ATP8B1 (FIC1)

602397

.

 1200
CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY   See CITRULLINEMIA, TYPE 2, NEONATAL-ONSET      

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE

211600

 		 ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) 603201   1200

ATP8B1 (FIC1)

602397

.

 1200
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3
» MDR3 DEFICIENCY
» CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE		 602347 ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P-GLYCOPROTEIN 3; PGY3)

171060

   2200
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE   See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3      
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
» CETP DEFICIENCY		 607322 CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1)

118470

   800

CHONDRODYSPLASIA, GREBE TYPE
» ACHONDROGENESIS, BRAZILIAN TYPE
» ACROMESOMELIC DYSPLASIA, GREBE TYPE

 200700 GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) 601146   360
CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC   See CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)      
CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)
» CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC		 302950 ARSE (ARYLSULFATASE E) 300180   1100

CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2
» CONRADI-HUNERMANN SYNDROME
» HAPPLE SYNDROME

 302960

EBP (EMOPAMIL-BINDING PROTEIN, 3-@BETA-HYDROXYSTEROID-DELTA-8, DELTA-7 ISOMERASE)

 300205   450
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1      
CHONDRODYSTROPHIC MYOTONIA   See SCHWARTZ-JAMPEL SYNDROME, TYPE 1      
CHOREA, HEREDITARY BENIGN 118700   TITF1 (THYROID NUCLEAR FACTOR, NKX2A)
 600635   . 540
CHOREOATHETOSIS, NONKINESIGENIC   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
CHOROIDAL SCLEROSIS   See CHOROIDEREMIA      

CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS

 303100

CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE)

 300390   550
CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN   See RETINITIS PIGMENTOSA 3, RP3      
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM 233690 CYBA (p22 PHOX) 233690   800
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 1 233700 NCF1 (p47 PHOX) 233700   350
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 2 233710 NCF2 (p67 PHOX) 233710   1800
CHRONIC GRANULOMATOUS DISEASE (X-LINKED) 306400 CYBB (p91 PHOX) 306400   1100
CHUVASH POLYCYTHEMIA 263400 VHL 193300 Whole Gene or Deletion Analysis (MLPA) Whole Gene: 330
MLPA: 350

CINCA SYNDROME
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID

 607115 CIAS1 (CRYOPYRIN) 606416   650
CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY 172471  PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2) 172471    710
CITRULLINURIA   See CITRULLINEMIA, CLASSIC      
CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY		 215700 ASS (ARGININOSUCCINATE SYNTHETASE) 603470   950
CITRULLINEMIA, TYPE 1   See CITRULLINEMIA, CLASSIC      
CITRULLINEMIA, TYPE 2, ADULT-ONSET 603471 SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) 603859   1200
CITRULLINEMIA, TYPE 2, NEONATAL-ONSET
» CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY

605814

 SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) 603859   1200
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE 192090

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication Whole Gene: 1100
Deletion-Duplication: 600

CLEIDOCRANIAL DYSPLASIA, CCD 

119600

RUNX 2 (CBFA 1)

600211

.

 900

CLOUSTON SYNDROME
» HYDROTIC ECTODERMAL DYSPLASIA, ED2
» ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME

129500 GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene 200
COAGULATION FACTOR 11 DEFICIENCY   See PTA DEFICIENCY      
COATS DISEASE 300216 NDP (NORRIN)  310600    450
COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A
 216400 CKN1 (CSA) 216400    1050
COCKAYNE SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B		 133540 ERCC6 (CSB)
 133540   600
COCKAYNE SYNDROME, TYPE A   See COCKAYNE SYNDROME, TYPE 1      
COCKAYNE SYNDROME, TYPE B   See COCKAYNE SYNDROME, TYPE 2      
COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA OF HANDS AND FEET      
COENZYME Q10 DEFICIENCY 607426 COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) 609825   650
PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) 607429   800
PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) 610564   650
COFFIN-LOWRY SYNDROME, CLS 303600 RSK2 (RPS6KA3) 300075   630
COHEN SYNDROME, COH1 216550 COH1 607817  Whole Gene or Exon 23, including the “Finnish mutation” (c.3348-3349delCT) Whole Gene: 4800
Exon 23: 260

COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

 120100 CIAS1 (CRYOPYRIN) 606416   650

COLLODION FETUS
» LAMELLAR ICHTHYOSIS

 242300 TGM1 (TRANSGLUTAMINASE) 190195   1400
COLON, ADENOMATOUS POLYPOSIS . See POLYPOSIS COLI, ADENOMATOUS      
COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) 608456

MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF)

604933  Whole Gene or 2 Common Mutations: Y165C and G382D Whole Gene: 900
2 Mutations: 300

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1
» LYNCH CANCER FAMILY SYNDROME

 114500 MLH1 120436 Whole Gene and MLPA 850
MSH2 120435 Whole Gene and MLPA 750
MSH6 600678 Whole Gene and MLPA 750
MLH1, MSH2 and MSH6  

3 Genes (Whole Gene and MLPA)

 1950

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2
» LYNCH CANCER FAMILY SYNDROME

 114400 MLH1 120436 Whole Gene and MLPA 850
MSH2 120435 Whole Gene and MLPA 750
MSH6 600678 Whole Gene and MLPA 750
MLH1, MSH2 and MSH6  

3 Genes (Whole Gene and MLPA)

 1950
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, HNPCC6 190182 TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 . 550
COLORECTAL CANCER, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   1000
COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1   See HEMOLYTIC-UREMIC SYNDROME, HUS      
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3
» ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS		 610505 TSFM (Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL) 604723   500
COMMON VARIABLE HYPOGAMMAGLOBULINEMIA   See COMMON VARIABLE IMMUNODEFICIENCY      

COMMON VARIABLE IMMUNODEFICIENCY
» COMMON VARIABLE HYPOGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA, ACQUIRED
» IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET

 240500

TNFRSF13 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR, TACI1)

 604907   1000
COMPLEMENT FACTOR 1 DEFICIENCY 217030

CFI (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR)

 217030   900
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED   See RETINAL CONE DYSTROPHY, TYPE 3B      
CONE-ROD DEGENERATION (X-LINKED)   See RETINITIS PIGMENTOSA 15, RP15      

CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1
» ACHROMATOPSIA, INCOMPLETE (X-LINKED)

304020

 RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) 312610 Exons 1-15 and ORF15 880
CONE-ROD DYSTROPHY, TYPE 9, CORD9 608194 RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) 605446   900
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN 604168 CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) 604927 1 Mutation: IVS6, C-T, +389 250

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
» ONDINE CURSE
» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME

209880

PHOX2B

603851

.

. 		 510
CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD 277180 CFTR 602421

Whole Gene or
Mutations Kit or MLPA

 Whole Gene: 900
30 Mutations Kit: 250
200 Mutations Kit: 400
MLPA: 350
CONGENITAL HEART DISEASE (X-LINKED) . ZIC3  300265 . 550
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS   See CHILD SYNDROME      
CONGENITAL HYPOMYELINATING NEUROPATHY   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E      
CONGENITAL LIPOMATOSIS OF PANCREAS   See SHWACHMAN-DIAMOND SYNDROME, SDS      
CONGENITAL MYASTHENIC SYNDROME, TYPE 1A   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA      
CONGENITAL MYASTHENIC SYNDROME, TYPE 1B   See MYASTHENIA, LIMB-GIRDLE, FAMILIAL      
CONGENITAL MYASTHENIC SYNDROME, TYPE 1C   See ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY      
CONGENITAL NEUTROPENIA   See NEUTROPENIA, SEVERE CONGENITAL, SCN      
CONOTRUNCAL ANOMALY FACE SYNDROME
» DOUBLE-OUTLET RIGHT VENTRICLE
» TRUNCUS ARTERIOSUS COMMUNIS		 217095 TBX1 (T-BOX 1) 602054   1250
CONRADI-HUNERMANN SYNDROME   See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2      
CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY   See EPISODIC ATAXIA, TYPE 1, EA1      
CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA
» BEALS SYNDROME
121050 FBN2 (FIBRILLIN 2)

121050

 15 exons (exons 15, 22 -33 , 35-36) 1300
CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1   See EPILEPSY, BENIGN NEONATAL, TYPE 1      
CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA   See MYOKYMIA WITH NEONATAL EPILEPSY      
COPROPORPHYRIA
» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA		 121300 CPO (COPROPORPHYRINOGEN OXIDASE) 121300   600
COPROPORPHYRINOGEN OXIDASE DEFICIENCY   See COPROPORPHYRIA      
CORI DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 3      
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 PPCD1 122000 VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)     850
CORNELIA DE LANGE SYNDROME
» BRACHMANN-DE LANGE SYNDROME
 122470 NIPBL 608667  . 1600
CORNELIA DE LANGE SYNDROME (X-LINKED) 300590 SMC1A (STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A, SMC1L1, SMC1) 300040    1300
CORPUS CALLOSUM AGENESIS (X-LINKED), ACC 304100 L1 (L1CAM) 308840   900
CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY
» ALDOSTERONE DEFICIENCY 1
» HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
» ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE DEFICIENCY
» STEROID 18-@HYDROXYLASE DEFICIENCY

203400

 CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)		 124080    1500

CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
» APPARENT MINERALOCORTICOID EXCESS
» 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2

  218030 HSD11B2 218030   400
CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT   See GLUCOCORTICOID RECEPTOR DEFICIENCY      

COSTELLO SYNDROME
» FACIOCUTANEOSKELETAL SYNDROME

 218040

HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG)

 190020

1 Exon: 2
or
4 Exons: 2, 3, 4, 6

 1 Exon: 300
4 Exons: 600
COVESDEM SYNDROME    See ROBINOW SYNDROME (AUTOSOMAL RECESSIVE)      

COWDEN DISEASE 
» LHERMITTE-DUCLOS DISEASE 

 158350

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

 601299   2100
PTEN 601728

Whole Gene or Deletions

 Whole Gene: 1400
Deletions: 500
COX DEFICIENCY   See CYTOCHROME c OXIDASE DEFICIENCY      
CPS1 DEFICIENCY   See CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO      
CPT1 DEFICIENCY   See CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY      
CPT2 DEFICIENCY, HEPATIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE      
CPT2 DEFICIENCY, LATE-ONSET   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CPT2 DEFICIENCY, LETHAL NEONATAL   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL      
CPT2 DEFICIENCY, MYOPATHIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CRANIOCARPOTARSAL DYSTROPHY   See ARTHROGRYPOSIS, DISTAL, TYPE 2A      
CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS .  VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)     850
CRANIOFRONTONASAL DYSOSTOSIS . See CRANIOFRONTONASAL SYNDROME, CFNS . .. .
CRANIOFRONTONASAL SYNDROME, CFNS
» CRANIOFRONTONASAL DYSOSTOSIS		 304110 EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) 300035 . 920
CRANIOMANDIBULAR DERMATODYSOSTOSIS  . See MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA .    
CRANIOORODIGITAL SYNDROME   See OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2      
CRANIOSYNOSTOSIS, APERT SYNDROME
.
 
 
  
CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA . See BEARE-STEVENSON CUTIS GYRATA      
CRANIOSYNOSTOSIS, BOSTON-TYPE   See CRANIOSYNOSTOSIS, TYPE 2      
CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS   See CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS      
CRANIOSYNOSTOSIS, CROUZON SYNDROME   See CROUZON SYNDROME      

CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

..

See JACKSON-WEISS SYNDROME

.

.

  

CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)

..

See NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)

.

.

  
CRANIOSYNOSTOSIS, PFEIFFER SYNDROME . See PFEIFFER SYNDROME . . .
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME   See BALLER-GEROLD SYNDROME      

CRANIOSYNOSTOSIS, SADDAN DYSPLASIA

.

See SADDAN DYSPLASIA

.

.

  

CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

..

See SAETHRE-CHOTZEN SYNDROME

.

.

  

CRANIOSYNOSTOSIS, TYPE 2
» CRANIOSYNOSTOSIS, BOSTON-TYPE

 604757 MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) 123101   800
CRANIOSYNOSTOSIS WITH RADIAL DEFECTS   See BALLER-GEROLD SYNDROME      

CRASH SYNDROME
» MENTAL RETARDATION, APHASIA, SHUFFLING GATE, AND ADDUCTED THUMBS SYNDROME, MASA

 303350 L1 (L1CAM) 308840   900
CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY   See GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY      

CREATINE DEFICIENCY SYNDROME (X-LINKED)

300352

 SLC6A8 (CREATINE TRANSPORTER, CT1) 300036 Blood in RNA PAX tubes 1500
CREE ENCEPHALITIS   See AICARDI-GOUTIERES SYNDROME 1      
CREE LEUKOENCEPHALOPATHY   LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER      

CREUTZFELDT-JAKOB DISEASE, CJD

123400

 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 450
CRIGLER-NAJJAR SYNDROME, TYPE 1

218800

 UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) 191740   700
CRIGLER-NAJJAR SYNDROME, TYPE 2 606785 UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) 191740   700

CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS
» CROUZONO DERMO SKELETAL SYNDROME
» CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS

 . FGFR3 134934   500
CROUZON SYNDROME
» CRANIOSYNOSTOSIS, CROUZON SYNDROME		 123500 FGFR2 176943   500
CRYPTIC Y-CHROMOSOMAL MATERIAL . TSPY (TESTIS-SPECIFIC PROTEIN, Y-LINKED)
 480100 . 350
CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME   See FRASER SYNDROME      
CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS   See FRASER SYNDROME      
CURRARINO TRIAD
» SACRAL AGENESIS SYNDROME
» SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION		 176450 HLXB9 (HOMEOBOX GENE HB9)
 142994    700
CUTANEOUS MALIGNANT MELANOMA 2, CMM2 155601 CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; P16; CDKN2) 600160   380
CUTIS LAXA (AUTOSOMAL DOMINANT) 123700 ELN (ELASTIN) 130160 Sequencing, MLPA or Both Sequencing: 1300
MLPA: 400
Both: 1600
FBLN5 (FIBULIN 5) 604580   800
CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100 FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) 607844   800
FBLN5 (FIBULIN 5) 604580   800

CYCLIC HEMATOPOIESIS
» CYCLIC NEUTROPENIA

162800

 ELA2 (ELASTASE 2) 130130   700
CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS 		. KRT1 (KERATIN 1) 139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400
CYCLIC NEUTROPENIA   See CYCLIC HEMATOPOIESIS      
CYP21 DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1      
CYSTIC FIBROSIS, CF 219700 CFTR 602421

Whole Gene or
Mutations Kit or MLPA

 Whole Gene: 900
30 Mutations Kit: 250
200 Mutations Kit: 400
MLPA: 350
CYSTINOSIS, ADULT NONNEPHROPATHIC 219750 CTNS (CYSTINOSIN) 606272   900
CYSTINOSIS, INTERMEDIATE   See CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE      

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE
» CYSTINOSIS, INTERMEDIATE

 219900 CTNS (CYSTINOSIN) 606272   900
CYSTINOSIS, NEPHROPATHIC 219800 CTNS (CYSTINOSIN) 606272   900

CYSTINURIA TYPE 1

 

220100

 SLC3A1 (RBAT) 104614 Whole Gene 900
SLC7A9 604144 Whole Gene 1140

SLC3A1 (RBAT)
(analyzed together with SLC7A9)

104614

 10 mutations in SLC3A1:
Thr216Met, Ser217Arg, Arg365Trp,
Arg365Leu,
Arg362Cys, Met467Thr,
Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9

includes

7 mutations
in SLC7A9:
Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp		 700

SLC7A9
(analyzed together with SLC3A1)

604144

 700

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 252010 NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) 157655 . 1200
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) 603846 . 1200
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) 602694 . 1200
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) 601825 . 1200
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) 602141 . 1200
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) 161015 . 1200
CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF		 252011 SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) 600857 . 1200

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 124000 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 . 1200

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 220110 COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) 602125 . 650

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

 603646 . 1200
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) 300502   1000
SCO2 604272   350
SURF1 (SURFEIT 1) 185620   750
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY   See CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

D

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
DALMATIAN HYPOURICEMIA   See HYPOURICEMIA, RENAL      
DANON DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
DARIER DISEASE . See DARIER-WHITE DISEASE .    
DARIER-WHITE DISEASE
» KERATOSIS FOLLICULARIS
» DARIER DISEASE		 124200 ATP2A2 (ATP2B, SERCA2) 108740   2200
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13   See DEAFNESS, DFNA13      
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53   See DEAFNESS, DFNA53      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9   See DEAFNESS, DFNB9      

DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3
» PERILYMPHATIC GUSHER-DEAFNESS SYNDROME

  . 

POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4)

 300039   300

DEAFNESS, DFNA2
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2

 600101 GJB3 (CONNEXIN 31, CX31) 603324 Whole Gene 330

DEAFNESS, DFNA3
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 3

 601544 GJB2 (CONNEXIN 26, CX26) 121011   200
GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene 200

DEAFNESS, DFNA6
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 6

 600965 WFS1 (WOLFRAMIN ) 606201   400
DEAFNESS, DFNA9
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9		 603196 COCH (COCHLIN)
 603196 Whole Gene or 1 Mutation: P51S Whole Gene: 950
1 Mutation: 150
DEAFNESS, DFNA13
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13		 601868 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks 3300
DEAFNESS, DFNA17
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 17
 603622 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1800
DEAFNESS, DFNA23 (AUTOSOMAL DOMINANT) 605192 SIX1 601205   500
DEAFNESS, DFNA53
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53 		609706 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks 3300

DEAFNESS, DFNB1
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1

 220290 GJB2 (CONNEXIN 26, CX26) 121011   200
GJB6  (CONNEXIN 30, CX30) 604418 Whole Gene 200
DEAFNESS, DFNB4
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 4		 600791 SLC26A4 (PENDRIN) 605646   800

DEAFNESS, DFNB9
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9
» AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1

 601071

OTOF (OTOFERLIN)

 603681    1250
DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME   See MOHR-TRANEBJAERG SYNDROME      
DEAFNESS, MITOCHONDRIAL . Listed separately.
» See also (Mitochondrial Molecular Tests) 		      
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES   See TOWNES-BROCKS SYNDROME      
DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY   See MOHR-TRANEBJAERG SYNDROME      
DEAFNESS, WITH KERATITIS AND ICHTHYOSIS . See KERATITIS-ICHTHYOSIS-DEAFNESS      
DEAFNESS, WITH PALMOPLANTAR KERATODERMA . See PALMOPLANTAR KERATODERMA WITH DEAFNESS      
DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F      
DE LA CHAPELLE DYSPLASIA   See ATELOSTEOGENESIS TYPE 2      
DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION   See FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE      
DEMENTIA, PREFRONTAL, WITH BONE CYSTS   See PRESENILE DEMENTIA WITH BONE CYSTS      
DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA   See PRESENILE DEMENTIA WITH BONE CYSTS      
DE MORSIER SYNDROME   See SEPTOOPTIC DYSPLASIA      
DENT NEPHROCALCINOSIS 300009 CLCN5 300008   800

OCRL1

309000.

   800
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, DRPLA 125370 DRPLA (ATROPHIN 1) 125370

Repeat

 250

DENYS-DRASH SYNDROME
» WILMS TUMOR AND PSEUDOHERMAPHRODITISM

 194080 WT1 (WILMS TUMOR 1 GENE) 607102

Whole Gene

700
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS   See BUSCHKE-OLLENDORFF SYNDROME      
DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH
OSTEOPOIKILOSIS		   See BUSCHKE-OLLENDORFF SYNDROME      
DERMATOOSTEOPOIKILOSIS   See BUSCHKE-OLLENDORFF SYNDROME      
DESMINOPATHY, PRIMARY   See MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED      
DEVELOPMENTAL VERBAL DYSPRAXIA   SPEECH-LANGUAGE DISORDER, TYPE 1      
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS   See KARTAGENER SYNDROME      
D-GLYCERATE DEHYDROGENASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 2      
DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS . See WOLFRAM SYNDROME      
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 125800 AQP2 (AQUAPORIN 2) 107777   320
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 222000 AQP2 (AQUAPORIN 2) 107777   320
DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 304800 AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)
 304800   350
DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS 147670 INSR (INSULIN RECEPTOR) 147670   2400
DIABETES MELLITUS, MILD JUVENILE . See MATURITY-ONSET DIABETES OF THE YOUNG      

DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO

 125853  NEUROD1 (BETA2) 601724 . 400
PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)		 601487 2 Mutations: P12A and P115Q 250
DIABETES MELLITUS, PERMANENT NEONATAL 606176 ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) 600509   1400
KCNJ11 600937 . 350
DIABETES MELLITUS, TYPE 2   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      

DIAMOND-BLACKFAN ANEMIA, DBA

105650

RPS19

603474

   470
DIAPHYSEAL DYSPLASIA 1 . See CAMURATI-ENGELMANN DISEASE . . .
DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      

DIASTROPHIC DYSPLASIA , DTD 

222600

 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
DIBASICAMINO ACIDURIA, TYPE 2   See LYSINURIC PROTEIN INTOLERANCE      
DIDMOAD . See WOLFRAM SYNDROME      
DIEGO BLOOD GROUP ANTIGEN 110500 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   150
DIGEORGE SYNDROME, DGS
» CATCH22
» 22q11.2 DELETION SYNDROME		 188400 TBX1 (T-BOX 1) 602054   1250
DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM   See FEINGOLD SYNDROME      
DILATED CARDIOMYOPATHY       See ACTC, MYL2 and MYL3  
    See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  
DILATED CARDIOMYOPATHY (X-LINKED) 302045 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA) Whole Gene: 1850
Deletions-Duplications (MLPA): 500
DILATED CARDIOMYOPATHY, 1D, CMD1D 601494 TNNT2  191045 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  
DILATED CARDIOMYOPATHY, 1I, CMD1I 604765 DES (DESMIN) 125660   750
DILATED CARDIOMYOPATHY, 1L, CMD1L 606685 SGCD (SARCOGLYCAN DELTA) 601411   600
DILATED CARDIOMYOPATHY WITH CARDIAC CONDUCTION DEFECTS, CMD1A
 115200 LMNA (LAMIN A/C) 150330   700
DISACCHARIDE INTOLERANCE   See LACTOSE INTOLERANCE      
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX   See FRONTOTEMPORAL DEMENTIA      
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS   See MAY-HEGGLIN ANOMALY      
DONOHUE SYNDROME   See LEPRECHAUNISM      
DOPA DECARBOXYLASE DEFICIENCY   See AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY      
DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION      
DOPA-RESPONSIVE DYSTONIA (AUTOSOMAL RECESSIVE)   See SEGAWA SYNDROME (AUTOSOMAL RECESSIVE)      

DOUBLE CORTEX SYNDROME
» LISSENCEPHALY (X-LINKED)
» SUBCORTICAL LAMINAR HETEROTOPIA

 300067 DCX (DOUBLECORTIN) 300121

Whole Gene Sequencing or Deletions - Duplications

 Whole Gene Sequencing: 750
or Deletions - Duplications: 300
DOUBLE-OUTLET RIGHT VENTRICLE . See CONOTRUNCAL ANOMALY FACE SYNDROME .    
DR SYNDROME   See DUANE-RADIAL RAY SYNDROME      
DRAVET SYNDROME   See SEVERE MYOCLONIC EPILEPSY OF INFANCY      
DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS   See DUANE-RADIAL RAY SYNDROME      

DUANE-RADIAL RAY SYNDROME
» OKIHIRO SYNDROME
» DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
» DR SYNDROME
» ACRORENOOCULAR SYNDROME

607323

SALL4 (SAL-LIKE 4)

 607343 Whole Gene or Deletions Whole Gene: 1200
Deletions: 350
DU PAN SYNDROME . See FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY      
DUCHENNE MUSCULAR DYSTROPHY, DMD
» MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY 		310200 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA) Whole Gene: 1850
Deletions-Duplications (MLPA): 500

DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1
» LIMB GIRDLE MUSCULAR DYSTROPHY 2C, LGMD2C
» MUSCULAR DYSTROPHY, DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1

253700 SGCG (SARCOGLYCAN GAMMA) 253700   400
DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 2, AUTOSOMAL RECESSIVE, DMDA2 . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . . .

DYSAUTONOMIA, FAMILIAL, DYS
» RILEY-DAY SYNDROME
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY, TYPE 3, HSAN-3
» (See also Molecular Screening Tests)

 223900 IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) 603722 2 Mutations: IVS2 + 6T-C, R696P 150
DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
» FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA
» FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA		 107741 APOE (APOLIPOPROTEIN E)
 107741 . 300
DYSCHONDROSTEOSIS   See LERI-WEILL DYSCHONDROSTEOSIS      
DYSCHONDROSTEOSIS, HOMOZYGOUS   See LANGER MESOMELIC DYSPLASIA      
DYSENCEPHALIA SPLANCHNOCYSTICA   See MECKEL SYNDROME, TYPE 1      
See MECKEL SYNDROME, TYPE 3      
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1   See ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1      
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
» MACROTHROMBOCYTOPENIA (X-LINKED)		 300637 GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) 305371   Upon Request
DYSFIBRINOGENEMIA . See AFIBRINOGENEMIA      

DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT)
» DYSKERATOSIS CONGENITA, SCOGGINS TYPE

 127550 TERC (TELOMERASE RNA COMPONENT) 602322   400

DYSKERATOSIS CONGENITA (X-LINKED), DKC
» ZINSSER-COLE-ENGMAN SYNDROME

 305000 DKC1 (DYSKERIN) 300126   1750
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER   See KALLMANN SYNDROME, TYPE 1, KAL1      
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
» ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE		 224410 HSPG2 (PERLECAN, HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE) 142461   4400
DYSTONIA 5, DYT5   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION      
DYSTONIA 8, DYT8   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
DYSTONIA 11, DYT11   See MYOCLONIC DYSTONIA      
DYSTONIA, ALCOHOL-RESPONSIVE   See MYOCLONIC DYSTONIA      
DYSTONIA-DEAFNESS SYNDROME   See MOHR-TRANEBJAERG SYNDROME      
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
» SEPIAPTERIN REDUCTASE DEFICIENCY		 182125 SPR (SEPIAPTERIN REDUCTASE) 182125   400

DYSTONIA MUSCULORUM DEFORMANS
» TORSION DYSTONIA, EARLY ONSET, DYT1

 128100 DYT1 (TOR1A, TORSIN A) 605204 GAG Deletion or Whole Gene GAG Deletion: 250
Whole Gene: 660
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
» DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
» DYSTONIA 5, DYT5
» SEGAWA SYNDROME (AUTOSOMAL DOMINANT)
» DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD		 128230 GCH1 (GTP CYCLOHYDROLASE 1) 600225   550
DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

E
 
Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3   See ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3      
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
» RAPP-HODGKIN SYNDROME		 129400 TP73L (TUMOR PROTEIN p73-LIKE) 603273 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME .. See CLOUSTON SYNDROME      
ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 1 .. See ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1      
ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 3 .. See ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3      
ECTODERMAL DYSPLASIA, HYPO-ANHIDROTIC (X-LINKED), ED1 305100

ED1  (ECTODYSPLASIN A, EDA)

300451

.

 1100
ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE) . See HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) . . .
ECTODERMAL DYSPLASIA, HYPOHIDROTIC WITH IMMUNE DEFICIENCY . See HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY . . .
ECTOPIA LENTIS 129600 FBN1 (FIBRILLIN1) 134797 At least 20mg DNA is needed  1300

ECTOPIA PUPILLAE

129750

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 1500
MLPA: 600
ECTOPIC OSSIFICATION, FAMILIAL . See OSSEOUS HETEROPLASIA, PROGRESSIVE .    

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1
» ECTODERMAL DYSPLASIA, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1

129900
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3
» ECTODERMAL DYSPLASIA, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3

604292
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE   See EHLERS-DANLOS TYPE 6, EDS 6      
EHLERS - DANLOS TYPE 1, EDS 1 130000 COL5A1 and COL5A2 120215 and 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Null Allele Detection: 350
Whole Gene Analysis: 850
COL1A1 and COL1A2 120150 and 120160 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Whole Gene: 1200
EHLERS - DANLOS TYPE 2, EDS 2 130010 COL5A1 and COL5A2 120215 and 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Null Allele Detection: 350
Whole Gene Analysis: 850
EHLERS - DANLOS TYPE 4, EDS 4 130050 COL3A1 120180 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Null Allele Detection: 350
Whole Gene Analysis: 850
EHLERS-DANLOS TYPE 6, EDS 6
» EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE		 225400 PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; LYSYL HYDROXYLASE) 153454 Whole Gene Sequencing or Duplication Exons 10-16 Whole Gene Sequencing: 2300
Duplication Exons: 350

EHLERS-DANLOS, TYPE 7, DOMINANT, EDS7

130060

COL1A1 and COL1A2

120150 and 120160

Splice site mutations exons 5, 6 and 7

 625
ELLIPTOCYTOSIS (MALAYSIAN-MELANESIAN TYPE, ELLIPTOCYTOSIS 4) 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   950
ELLIS-VAN CREVELD SYNDROME 225500 EVC 604831 . 400
EVC2 607261 . 400

EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT ), EDMD2

181350

 LMNA (LAMIN A/C) 150330   700
EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE ), EDMD3
 604949 LMNA (LAMIN A/C) 150330   700

EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD
» MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

310300

EMERIN (EMD)

300384

.

 500
ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS   See COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3      
ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS   See AICARDI-GOUTIERES SYNDROME 1      
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
» ENGEL CONGENITAL MYASTHENIC SYNDROME
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1C		 603034 COLQ (COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN) 603033   1050
ENGEL CONGENITAL MYASTHENIC SYNDROME   See ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY      
ENLARGED VESTIBULAR AQUEDUCT SYNDROME, EVA 603545 SLC26A4 (PENDRIN) 605646   800
ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE   See EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE   See EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE      
See EPIDERMOLYSIS BULLOSA OF HANDS AND FEET      
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
» ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES		 131750 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)   See TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)      
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE) 		226600 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE)   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)      
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE		 607600 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT   		226650 COL17A1 (COLLAGEN, TYPE 17, ALPHA-1)
 113811   2500
ITGB4 (INTEGRIN, BETA-4) 147557   2500
LAMA3 (LAMININ, ALPHA-3) 600805 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMB3 (LAMININ, BETA-3) 150310 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMC2 (LAMININ, GAMMA-2) 150292 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMA3,
LAMB3 and
LAMC2		 6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X		 600
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE   See EPIDERMOLYSIS BULLOSA LETALIS      
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT    See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA		 226700 LAMA3 (LAMININ, ALPHA-3) 600805 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMB3 (LAMININ, BETA-3) 150310 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMC2 (LAMININ, GAMMA-2) 150292 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMA3,
LAMB3 and
LAMC2		 6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X		 600
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC 609638 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
» WEBER-COCKAYNE TYPE EPIDERMOLYSIS BULLOSA SIMPLEX
» COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE		 131800 ITGB4 (INTEGRIN, BETA-4) 147557   2500
EPIDERMOLYSIS BULLOSA, PRETIBIAL 131850 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES   See EPIDERMOLYSIS BULLOSA DYSTROPHICA, DOMINANT      
EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE)

604129

 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1   See EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE      

EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE)

131760

KRT14 (KERATIN 14)

148066

Whole Gene

 1000

KRT5 (KERATIN 5)

148040

Whole Gene

 1000

KRT5 and KRT14 (KERATIN 5 and KERATIN 14)

.

Hotspots

 800

EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE)

131900

KRT14 (KERATIN 14)

148066

Whole Gene

 1000

KRT5 (KERATIN 5)

148040

Whole Gene

 1000

KRT5 and KRT14 (KERATIN 5 and KERATIN 14)

.

Hotspots

 800
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
» EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1
 131950 PLEC1 (PLECTIN 1) 601282   2500
EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS   See EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE      

EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE)

131800

KRT14 (KERATIN 14)

148066

Whole Gene

 1000

KRT5 (KERATIN 5)

148040

Whole Gene

 1000

KRT5 and KRT14 (KERATIN 5 and KERATIN 14)

.

Hotspots

 800
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE		 132000 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
» CARMI SYNDROME		 226730 ITGB4 (INTEGRIN, BETA-4) 147557   2500
ITGA6 (INTEGRIN, ALPHA-6) 147556  

1500

EPIDERMOLYTIC HYPERKERATOSIS

.

See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL

.

.

  

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA
» VORNER DISEASE
» HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

144200

KRT9 (KERATIN 9)

144200

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400
EPILEPSY, BENIGN NEONATAL-INFANTILE   See SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE      

EPILEPSY, BENIGN NEONATAL, TYPE 1
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1

 121200

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

 602235   1600
EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA   See MYOKYMIA WITH NEONATAL EPILEPSY      
EPILEPSY, CHILDHOOD ABSENCE, 2 607681

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

 137164   2200
EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR   See EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4      
EPILEPSY, INFANTILE SPASMS (X-LINKED)   See INFANTILE SPASMS (X-LINKED), ISS X      
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 600513

CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT)

 118504   1100
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 605375 CHRNB2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2) 118507    1250
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
» EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR		 610353 CHRNA2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT) 118502    1250

EPILEPSY, PROGRESSIVE MYOCLONUS
» UNVERRICH-LUNDBORG DISEASE

254800

CSTB (CYSTATIN B, STEFIN B)

601145

Repeat

 400
EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2   See MYOCLONIC EPILEPSY OF LAFORA      
EPILEPSY, PYRIDOXINE-DEPENDENT, EPD
» AASA DEHYDROGENASE DEFICIENCY		 266100 ALDH7A1 (ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ANTIQUITIN; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE) 107323   1000
EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED   See PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY      
EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4
» MULTIPLE EPIPHYSEAL DYSPLASIA (AUTOSOMAL RECESSIVE)		 226900 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
» MED-IDDM SYNDROME
» IDDM-MED SYNDROME
» WOLCOTT-RALLISON SYNDROME

 226980

EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3)

 604032    1500
EPISKOPI BLINDNESS   See NORRIE DISEASE       
EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED   See EPISODIC ATAXIA, TYPE 2, EA2      
EPISODIC ATAXIA, TYPE 1, EA1
» EPISODIC ATAXIA WITH MYOKYMIA
» ATAXIA, EPISODIC, WITH MYOKYMIA
» PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
» MYOKYMIA WITH PERIODIC ATAXIA
» MYOKYMIA
» CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY
» ISAACS-MERTENS SYNDROME		 160120 KCNA1 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1)
 176260    550
EPISODIC ATAXIA, TYPE 2, EA2
» ATAXIA, EPISODIC, WITH NYSTAGMUS
» EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
» CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE		 108500 CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) 601011   1200
EPISODIC ATAXIA WITH MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1      
EPSTEIN SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS
» ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA
 153650 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1800
ERYTHROCYTOSIS, STOMATOCYTIC HEREDITARY 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   950
ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC 602036 LOR (LORICRIN) 152445    330

ERYTHROKERATODERMIA VARIABILIS, EKV

133200

GJB3 (CONNEXIN 31, CX31)

603324

Whole Gene

 330

GJB4 (CONNEXIN 30.3, CX30.3)

605425

.

 450

ESCOBAR SYNDROME
» MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
» MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
» PTERYGIUM COLLI SYNDROME
» PTERYGIUM UNIVERSALE

265000

 CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) 100730   1400
ETFA DEFICIENCY   MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD      
ETHYLMALONIC-ADIPICACIDURIA   MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD      
EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME   See BECKWITH-WIEDEMANN SYNDROME, BWS      
EXUDATIVE RETINOPATHY (X-LINKED)   See NORRIE DISEASE       
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

F

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €

FABRY DISEASE

301500

GLA (GALACTOSIDASE)

301500

.

 820
FACIOCUTANEOSKELETAL SYNDROME   See COSTELLO SYNDROME      

FACIODIGITOGENITAL SYNDROME

.

See AARSKOG SYNDROME

.

.

  
FACIOPALATOOSSEOUS SYNDROME   See OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2      

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» LANDOUZY-DEJERINE MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» MUSCULAR DYSTROPHY, LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

158900

FSHD

158900

Repeat

At least 10ml EDTA Blood

400

FACTOR 7 DEFICIENCY
» HYPOPROCONVERTINEMIA

 227500

F7 (FACTOR 7, COAGULATION FACTOR 7)

 227500   1450
FAH DEFICIENCY   See TYROSINEMIA, TYPE 1      
FAMILIAL AORTIC ANEURYSM   FBN1 (FIBRILLIN1) 134797 At least 20mg DNA is needed  1300

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

.

See COLD URTICARIA

.

.

  
FAMILIAL DYSAUTONOMIA, TYPE 2   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA      
FAMILIAL FATAL INSOMNIA   See INSOMNIA-DYSAUTONOMIA      
FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)   See NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1      
FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
FAMILIAL HYPOBETALIPOPROTEINEMIA   See HYPOBETALIPOPROTEINEMIA, FAMILIAL      
FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2   See PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH      
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ
» GOUTY NEPHROPATHY		 162000 UMOD (UROMODULIN) 191845   700

FAMILIAL MEDITERRANEAN FEVER, FMF

249100

MEFV

249100

Exons 2,3,5 and 10 harbouring 98% of all mutations or Whole Gene

 Exons 2,3,5 and 10: 350
Whole Gene: 750
FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 602481 ATP1A2 182340 Whole Gene or 2 Mutations: L764P and W887R Whole Gene: 800
2 Mutations: 300
FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE		   See EPISODIC ATAXIA, TYPE 2, EA2      
FAMILIAL RECURRENT ARTHRITIS   See PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE      

FAMILIAL SPASTIC PARAPLEGIA 1 (X-LINKED), SPG1

312900

L1 (L1CAM)

308840

.

 900

FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 

312920

PLP1 (PROTEOLIPID PROTEIN 1, PLP)

300401

Whole Gene or Duplication

Preferably EDTA-blood

 Whole Gene: 650
Duplication: 300

FAMILIAL SPASTIC PARAPLEGIA 3 (AUTOSOMAL DOMINANT), SPG3A, FSP1
» STRUMPELL DISEASE

182600

SPG3A (ATLASTIN)

606439

.

 1000

FAMILIAL SPASTIC PARAPLEGIA 4 (AUTOSOMAL DOMINANT), SPG4, FSP2

182601

SPG4 (SPASTIN, SPAST)

604277.

.

 1000
FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 600363

NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1)

 608145 Whole Gene 800
FAMILIAL SPASTIC PARAPLEGIA 7 (AUTOSOMAL RECESSIVE), SPG7, FSP7

607259

 SPG7 (PARAPLEGIN)
 602783  . 900

FAMILIAL SPASTIC PARAPLEGIA 10 (AUTOSOMAL DOMINANT), SPG10

604187

KIF5A (KINESIN FAMILY MEMBER 5A)

602821.

Whole Gene

 1000
FAMILIAL SPASTIC PARAPLEGIA 17, SPG17
» SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
» SILVER SYNDROME
» SILVER SPASTIC PARAPLEGIA SYNDROME
» SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5		 270685 BSCL2 (SEIPIN) 606158   1050
SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET   See FAMILIAL SPASTIC PARAPLEGIA 17, SPG17      
FANCONI ANEMIA
» FANCONI PANCYTOPENIA		 227650 FANCA 607139 Whole Gene, 14 Exons: Exons 1, 6, 7, 8, 11, 15, 16, 17, 19, 20, 32, 39, 42, 43, representing 25% of reported mutations or 8 Exons: Exons 13, 27, 29, 34-38, representing 67% of reported mutations Whole Gene: 5000
14 Exons: 1500
8 Exons: 1000

FANCONI ANEMIA, COMPLEMENTATION GROUP C
» FANCONI PANCYTOPENIA, TYPE 3
» (See also Molecular Screening Tests)

227645

FANCC

227645

1 Mutation: IVS4+4A-G

 150
FANCONI-BICKEL SYNDROME   See GLYCOGEN STORAGE DISEASE, TYPE 11      
FANCONI PANCYTOPENIA   See FANCONI ANEMIA      
FARABEE TYPE BRACHYDACTYLY . See BRACHYDACTYLY A1, BDA1 . . .
FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES   See GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+      
FECHTNER SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS
» ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA		 153640 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1800

FEINGOLD SYNDROME
» OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME
» MMT SYNDROME

 164280

MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED)

 164840 Whole Gene or Deletions Whole Gene: 800
Deletions: 350
FELLMAN SYNDROME . See GRACILE SYNDROME      
FETAL AKINESIA DEFORMATION SEQUENCE
» PENA-SHOKEIR SYNDROME, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA		 208150 RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) 601562   750
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY   See TIGHT SKIN CONTRACTURE SYNDROME, LETHAL      
FG SYNDROME   See OPITZ-KAVEGGIA SYNDROME      
FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS . See BIRT-HOGG-DUBE SYNDROME, BHD .    
FIBROMATOSIS, GINGIVAL, TYPE 1 135300 SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) 308700   1200
FIBROMUSCULAR DYSPLASIA 135580 COL3A1 120180 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Null Allele Detection: 350
Whole Gene Analysis: 850

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3
» OPHTHALMOPLEGIA, CONGENITAL
» BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS

135700

 

KIF21A (KINESIN FAMILY MEMBER 21A)

608283

Hot Spots (Exons 8, 20, 21)

 570

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2

602078

ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)

602753

.

 570

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3, FEOM3, CFEOM3

600638

KIF21A (KINESIN FAMILY MEMBER 21A)

608283

Hot Spots (Exons 8, 20, 21)

 570

FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
» FUHRMANN SYNDROME

 228930

WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A)

   601570   600

FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
» DU PAN SYNDROME

228900

GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)

601146

.

 950
FINNISH CONGENITAL NEPHROSIS   See NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1      
FINNISH LETHAL NEONATAL METABOLIC SYNDROME . See GRACILE SYNDROME      

FISH-EYE DISEASE

136120

LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE)

606967

.

 450

FISH-ODOR SYNDROME
» TRIMETHYLAMINURIA

602079

FMO3 (FLAVIN - CONTAINING MONOOXYGENASE 3)

136132

.

 700
FOCAL DERMAL HYPOPLASIA
» GOLTZ SYNDROME
» GOLTZ-GORLIN SYNDROME

305600

 PORCN (PORCUPINE, DROSOPHILA, HOMOLOG OF) 300651   1100
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 603278 ACTN4 (ACTININ, ALPHA-4) 604638  

1250
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 2 603965 TRPC6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6) 603652   800
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 607832 CD2AP (CD2-ASSOCIATED PROTEIN) 604241   1150
FORAMINA PARIETALIA PERMAGNA   See PARIETAL FORAMINA, TYPE 1      
  See PARIETAL FORAMINA, TYPE 2      
FORBES DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 3      

FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME

136520

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 1500
MLPA: 600
FOVEOMACULAR DYSTROPHY, ADULT-ONSET   See MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET      
FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION   See VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET      

FRAGILE E SYNDROME, FRAXE

309548

FMR2

309548

Repeat

 170
FRAGILE F SYNDROME 300031 FRAXF (FRAGILE SITE F) 300031 Repeat 180

FRAGILE X SYNDROME, FRAXA

309550

FMR1

309550

Repeat - At least 20mg DNA with a concentration higher than 300 nanogram per microliter is needed

 400

FRASER SYNDROME
» CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
» CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME

 219000

FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2)

 608945  Exon 6 250

FRASIER SYNDROME

136680

WT1 (WILMS TUMOR 1 GENE)

607102

Whole Gene

700
FREEMAN-SHELDON SYNDROME   See ARTHROGRYPOSIS, DISTAL, TYPE 2A      
FREEMAN-SHELDON SYNDROME VARIANT   See ARTHROGRYPOSIS, DISTAL, TYPE 2B      

FRIEDREICH ATAXIA, FRDA

229300

FRDA (FRATAXINE)

606829

Repeat or 5 Exons: 1-5

Repeat: 200
5 Exons: 750

FRONTOMETAPHYSEAL DYSPLASIA 305620 FLNA (FILAMIN A) 300017 Exons 22, 29 360

FRONTOTEMPORAL DEMENTIA
» MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
» DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
» WILHELMSEN-LYNCH DISEASE
» FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
» PALLIDOPONTONIGRAL DEGENERATION

 600274

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Whole Gene  1500
FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS   See FRONTOTEMPORAL DEMENTIA      

FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE
» DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION

 607485

GRN (GRANULIN, PROGRANULIN,
EPITHELIN)

 138945 Whole Gene or Deletions Whole Gene: 1300
Deletions: 400
FRUCTOSE INTOLERANCE
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
» ALDOLASE B DEFICIENCY		 229600 ALDOB (ALDOLASE B) 229600 Whole Gene or 3 Common Mutations: A149P, A174D, N334K Whole Gene: 850
3 Mutations: 150
FRUCTOSEMIA   See FRUCTOSE INTOLERANCE      
FRUCTOSE-1-PHOSPHATE   See FRUCTOSE INTOLERANCE      
FUCOSIDOSIS
» ALPHA-L-FUCOSIDASE DEFICIENCY 		230000 FUCA1 (ALPHA-L-FUCOSIDASE) 230000   710
FUHRMANN SYNDROME   See FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY      
FUMARASE DEFICIENCY 606812 FH (FUMARATE HYDRATASE, FUMARASE) 136850 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes 640
FUMARIC ACIDURIA   See FUMARASE DEFICIENCY      
FUMARYLACETOACETASE DEFICIENCY   See TYROSINEMIA, TYPE 1      

FUNDUS ALBIPUNCTATUS
» RETINITIS PUNCTATA ALBESCENS

 136880 PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400

RDH5 (RETINOL DEHYDROGENASE 5)

 601617   570

FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
» SORSBY SYNDROME

 136900

TIMP3 (TISSUE INHIBITOR OF METALLOPROTEINASE 3)

 188826    1150
FUNDUS FLAVIMACULATUS   See STARGARDT DISEASE, TYPE 1      
 

 

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Boala OMIM
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Gena OMIM
Comentariu
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G6PD DEFICIENCY
» GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

305900

G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE)

305900

   495
GALACTOCEREBROSIDASE DEFICIENCY   See KRABBE DISEASE      
GALACTOKINASE DEFICIENCY
» GALK DEFICIENCY
» GALACTOSEMIA TYPE 2
» GALACTOKINASE DEFICIENCY WITH CATARACT

230200 

 GALK1 (GALACTOKINASE 1) 604313  . 650
GALACTOKINASE DEFICIENCY WITH CATARACT   See GALACTOKINASE DEFICIENCY      
GALACTOSAMINE-6-SULFATASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A      
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY . See GALACTOSEMIA TYPE 1 . . .
GALACTOSEMIA TYPE 1
» GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
 230400 GALT (GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE) 606999 Whole Gene or 1 Mutation: GLN188ARG Whole Gene: 1200
1Mutation: 230
GALACTOSEMIA TYPE 2   See GALACTOKINASE DEFICIENCY      
GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY   See KRABBE DISEASE      
GALK DEFICIENCY   See GALACTOKINASE DEFICIENCY      
GAMT DEFICIENCY   See GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY      
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1   See GM1-GANGLIOSIDOSIS, TYPE 1      
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2   See GM1-GANGLIOSIDOSIS, TYPE 2      
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3   See GM1-GANGLIOSIDOSIS, TYPE 3      
GANGLIOSIDOSIS, GENERALIZED GM2, TYPE 1   See TAY-SACHS DISEASE      
GASTRIC CANCER, FAMILIAL DIFFUSE 137215

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication Whole Gene: 1100
Deletion-Duplication: 600
GAUCHER DISEASE DUE TO SAP2 DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY      

GAUCHER DISEASE, TYPE 1
» (See also Molecular Screening Tests)

230800

GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

 Whole Gene: 740
6 Mutations: 150

GAUCHER DISEASE, TYPE 2
» (See also Molecular Screening Tests)

230900

GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

 Whole Gene: 740
6 Mutations: 150

GAUCHER DISEASE, TYPE 3
» (See also Molecular Screening Tests)

231000

GBA  (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

 Whole Gene: 740
6 Mutations: 150
GCH DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY      
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES		 604233

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

 137164   2200
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene or Deletions-Duplications Whole Gene: 1820
Deletions-Duplications: 600

SCN1B (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 1, BETA SUBUNIT)

 600235   2100
SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, ALPHA SUBUNIT) 182390   2200
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2   See GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+      
GERMAN TYPE AMYLOIDOSIS   See AMYLOIDOSIS, FAMILIAL VISCERAL      
GERSTMANN-STRAUSSLER DISEASE, GSD 137440 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 450
GIANT AXONAL NEUROPATHY 1
» NEUROPATHY, GIANT AXONAL (AUTOSOMAL RECESSIVE)		 256850 GAN (GAN GENE, GIGAXONIN) 605379   850
GIANT CELL CHONDRODYSPLASIA   See ATELOSTEOGENESIS, TYPE 1      
GIANT PLATELET SYNDROME   See BERNARD-SOULIER SYNDROME      

GILBERT SYNDROME

143500

UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE)

191740

1 Mutation: TA insertion in promotor

 300
GITELMAN SYNDROME
» HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
» POTASSIUM AND MAGNESIUM DEPLETION		 263800 SLC12A3 (SOLUTE CARRIER FAMILY 12, SODIUM/CHLORIDE TRANSPORTER, MEMBER 3, THIAZIDE-SENSITIVE NA-CL COTRANSPORTER) 600968    1300
GLAUCOMA   CYP1B1,
OPTN and
MYOC

Analysis of 3 Genes 600
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG 137760 

OPTN (OPTINEURIN)

 602432 See also CYP1B1,
OPTN and
MYOC		 320

WDR36 (WD40-REPEAT 36)

 .   600
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 137750 MYOC (MYOCILIN)

 

601652 See also CYP1B1,
OPTN and
MYOC		 220
GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A
» BUPHTHALMOS		 231300  CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1) 601771 See also CYP1B1,
OPTN and
MYOC		 220
GLOBOID CELL LEUKODYSTROPHY   See KRABBE DISEASE      

GLOMUS TUMORS, TYPE 1

.

See PARAGANGLIOMAS, PGL1

 .

.

  
GLOMUS TUMORS, TYPE 3  

See PARAGANGLIOMAS, PGL3

      
GLOMUS TUMORS, TYPE 4   See PARAGANGLIOMAS, PGL4      
GLUCOCORTICOID DEFICIENCY 1
» ADRENAL UNRESPONSIVENESS TO ACTH
» ACTH RESISTANCE
 202200 MC2R (MELANOCORTIN 2 RECEPTOR; ACTH RECEPTOR) 607397   300
GLUCOCORTICOID DEFICIENCY 2 607398 MRAP (MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN)
 609196   500
GLUCOCORTICOID DEFICIENCY AND ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
GLUCOCORTICOID RECEPTOR DEFICIENCY
» GLUCOCORTICOID RESISTANCE
» CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
» PSEUDOHERMAPHRODITISM WITH HYPOKALEMIA DUE TO GLUCOCORTICOID RESISTANCE		 138040 NR3C1 138040 . 650
GLUCOCORTICOID RESISTANCE   See GLUCOCORTICOID RECEPTOR DEFICIENCY      
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY   See G6PD DEFICIENCY      
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
» GLUT1 DEFICIENCY SYNDROME		 606777 SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER) 138140 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600

GLUCOSIDASE DEFICIENCY

.

See GAUCHER DISEASE

.

.

  
GLUT1 DEFICIENCY SYNDROME   See GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER      

GLUTARIC ACIDURIA, TYPE 1

231670

GCDH (GLUTARYL COA DEHYDROGENASE)

231670

.

 500
GLUTARIC ACIDURIA, TYPE 2   MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD      
GLYCERIC ACIDURIA   See HYPEROXALURIA, PRIMARY, TYPE 2      
GLYCINE ENCEPHALOPATHY   See NONKETOTIC HYPERGLYCINEMIA      
GLYCINEMIA, KETOTIC   See PROPIONIC ACIDEMIA      
GLYCOGEN DEBRANCHER DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3      
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM   See GLYCOGEN STORAGE DISEASE, TYPE 2      
GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)   See GLYCOGEN STORAGE DISEASE, TYPE 9C      
GLYCOGEN PHOSPHORYLASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 6      
GLYCOGEN STORAGE CARDIOMYOPATHY   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
GLYCOGEN STORAGE DISEASE OF HEART   See GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL      

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
» PHOSPHORYLASE KINASE DEFICIENCY OF HEART
» GLYCOGEN STORAGE DISEASE OF HEART

 261740 PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)		 602743   650

GLYCOGEN STORAGE DISEASE, TYPE 0
» GSD TYPE 0
» LIVER GLYCOGEN SYNTHASE DEFICIENCY

 240600

GYS2 (GLYCOGEN SYNTHASE 2)

 138571   Upon Request

GLYCOGEN STORAGE DISEASE, TYPE 1A
 » GSD TYPE 1A
» VON GIERKE SYNDROME 

232200

G6PC (GLUCOSE-6-PHOSPHATASE)

232200

 

 570
GLYCOGEN STORAGE DISEASE, TYPE 1B
» GSD TYPE 1B		 232220 G6PT1 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1, GLUCOSE-6-PHOSPHATE TRANSLOCASE) 602671   710
GLYCOGEN STORAGE DISEASE, TYPE 2
» GSD TYPE 2
» ACID ALPHA-GLUCOSIDASE DEFICIENCY
» POMPE DISEASE
» GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
» CARDIOMEGALIA GLYCOGENICA DIFFUSA
» ACID MALTASE DEFICIENCY
» ALPHA-1,4-GLUCOSIDASE DEFICIENCY		 232300 GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) 606800   1700

GLYCOGEN STORAGE DISEASE, TYPE 2B
» GSD TYPE 2B
» VACUOLAR CARDIOMYOPATHY AND MYOPATHY (X-LINKED)
» LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY
» GLYCOGEN STORAGE CARDIOMYOPATHY
» PSEUDOGLYCOGENOSIS 2
GLYCOGEN STORAGE DISEASE LIMITED TO THE HEART
» ANTOPOL DISEASE
» DANON DISEASE

300257

LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2)

309060   750
GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY		 232400 AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) 610860   Upon Request
GLYCOGEN STORAGE DISEASE, TYPE 4
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
» GLYCOGENOSIS 4
» AMYLOPECTINOSIS		 232500 GBE1 (GLYCOGEN BRANCHING ENZYME) 607839   1275

GLYCOGEN STORAGE DISEASE, TYPE 5
» GSD TYPE 5
» MCARDLE DISEASE
» MYOPHOSPHORYLASE DEFICIENCY

 232600

PYGM (GLYCOGEN PHOSPHORYLASE, MUSCLE, MYOPHOSPHORYLASE)

 608455   1560
GLYCOGEN STORAGE DISEASE, TYPE 6
» GSD TYPE 6
» HERS DISEASE
» GLYCOGEN PHOSPHORYLASE DEFICIENCY		 232700 PYGL (GLYCOGEN PHOSPHORYLASE, LIVER) 232700   Upon Request
GLYCOGEN STORAGE DISEASE, TYPE 7
» GSD TYPE 7
» TARUI DISEASE
» MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY		  232300 PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE)  606800   Upon Request
GLYCOGEN STORAGE DISEASE, TYPE 8   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
GLYCOGEN STORAGE DISEASE, TYPE 9A
» GSD TYPE 9A
» LIVER PHOSPHORYLASE KINASE DEFICIENCY
» LIVER GLYCOGENOSIS (X-LINKED)
» GLYCOGEN STORAGE DISEASE, TYPE 8
» GSD TYPE 8		  306000 PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 SUBUNIT) 306000   2000
GLYCOGEN STORAGE DISEASE, TYPE 9B
» PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE (AUTOSOMAL RECESSIVE)		 261750 PHKB (PHOSPHORYLASE KINASE, BETA SUBUNIT) 172490   2200

GLYCOGEN STORAGE DISEASE, TYPE 9C
 » GSD TYPE 9C
» GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)

 604549  PHKG2 (PHOSPHORYLASE KINASE, TESTIS / LIVER, GAMMA-2) 172471    710
GLYCOGEN STORAGE DISEASE, TYPE 9D
» GSD TYPE 9D
» MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
» MUSCLE GLYCOGENOSIS (X-LINKED)		 300559 PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT) 311870   Upon Request
GLYCOGEN STORAGE DISEASE, TYPE 11
» GSD TYPE 11
» FANCONI-BICKEL SYNDROME
» HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
» PSEUDO-PHLORIZIN DIABETES 		227810 SLC2A2 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER, MEMBER 2, GLUT2) 138160   Upon Request
GLYCOLIC ACIDURIA   See HYPEROXALURIA, PRIMARY, TYPE 1      
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF   See BERNARD-SOULIER SYNDROME      
GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 2      
GM1-GANGLIOSIDOSIS, TYPE 1
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1		 230500 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1600
GM1-GANGLIOSIDOSIS, TYPE 2
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2		 230600 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1600
GM1-GANGLIOSIDOSIS, TYPE 3
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3		 230650 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1600
GM2-GANGLIOSIDOSIS, TYPE 2   See SANDHOFF DISEASE      
GM2-GANGLIOSIDOSIS, TYPE AB   See TAY-SACHS DISEASE, AB VARIANT      
GOITER, ADENOMATOUS   See GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)      
GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)
» GOITER, NONENDEMIC SIMPLE
» GOITER, ADENOMATOUS
» AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO		 188450 TG (SIMPLE, THYROGLOBULIN) 188450   300
GOITER, NONENDEMIC SIMPLE   See GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)      
GOLTZ SYNDROME   See FOCAL DERMAL HYPOPLASIA      
GOLTZ-GORLIN SYNDROME   See FOCAL DERMAL HYPOPLASIA      
GONADAL DYSGENESIS, XX TYPE   OVARIAN DYSGENESIS TYPE 1, ODG1      

GONADAL DYSGENESIS, XY FEMALE TYPE, GDXY
» SWYER SYNDROME
» SEX-REVERSAL

306100

SRY (SEX-DETERMINING REGION Y, TESTIS-DETERMINING FACTOR, TDF)

480000

Whole Gene or Positive / Negative

 Whole Gene: 370
Positive / Negative: 150
GORDON HYPERKALEMIA-HYPERTENSION SYNDROME   See PSEUDOHYPOALDOSTERONISM, TYPE 2      

GORLIN SYNDROME

.

See BASAL CELL NEVUS SYNDROME

.

.

  
GOUT, HPRT-RELATED
» KELLEY-SEEGMILLER SYNDROME 		 300323 HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) 308000   400
GOUTY NEPHROPATHY   See FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ      

GRACILE SYNDROME
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
» LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS
» FELLMAN SYNDROME

 603358 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 . 600

GRAVES DISEASE

275000

 TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372   500

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
» POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

 175700 GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) 165240  Whole Gene or Deletions Whole Gene: 1700
Deletions: 350
GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)   See PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE      
GROWTH HORMONE DEFICIENCY, ISOLATED   See PITUITARY DWARFISM 1      
GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)   See PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)      
GROWTH HORMONE INSENSITIVITY SYNDROME   See PITUITARY DWARFISM 2      
GROWTH HORMONE RECEPTOR DEFICIENCY   See PITUITARY DWARFISM 2      
GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH . See GRACILE SYNDROME      
GRUBER SYNDROME   See MECKEL SYNDROME, TYPE 1      
See MECKEL SYNDROME, TYPE 3      
GSD TYPE 0   See GLYCOGEN STORAGE DISEASE, TYPE 0      
GSD TYPE 1A   See GLYCOGEN STORAGE DISEASE, TYPE 1A      
GSD TYPE 1B   See GLYCOGEN STORAGE DISEASE, TYPE 1B      
GSD TYPE 2   See GLYCOGEN STORAGE DISEASE, TYPE 2      
GSD TYPE 2B   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
GSD TYPE 3   See GLYCOGEN STORAGE DISEASE, TYPE 3      
GSD TYPE 4   See GLYCOGEN STORAGE DISEASE, TYPE 4      
GSD TYPE 5   See GLYCOGEN STORAGE DISEASE, TYPE 5      
GSD TYPE 6   See GLYCOGEN STORAGE DISEASE, TYPE 6      
GSD TYPE 7   See GLYCOGEN STORAGE DISEASE, TYPE 7      
GSD TYPE 8   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
GSD TYPE 9A   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
GSD TYPE 9C   See GLYCOGEN STORAGE DISEASE, TYPE 9C      
GSD TYPE 9D   See GLYCOGEN STORAGE DISEASE, TYPE 9D      
GSD TYPE 11   See GLYCOGEN STORAGE DISEASE, TYPE 11      

GTP CYCLOHYDROLASE 1 DEFICIENCY
» GCH DEFICIENCY
» HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY
» PHENYLKETONURIA, ATYPICAL SEVERE, DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY

233910

GCH1 (GTP CYCLOHYDROLASE 1)

600225

.

 550
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
» GAMT DEFICIENCY
» CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY		 601240 GAMT (GUANIDINOACETATE METHYLTRANSFERASE) 601240   700
GUIBAUD - VAINSEL SYNDROME   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS      

GUTTMACHER SYNDROME

.

HOXA 13

142959

.

 510
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

H

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
HADDAD SYNDROME . See CONGENITAL CENTRAL HYPOVENTILATION SYNDROME . . .
HADH DEFICIENCY   See 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY      

HAEMOPHILIA A

306700

F8 (FACTOR 8)

306700

Whole Gene, Intron 1 Inversion or
Intron 22 Inversion

 Whole Gene: 620
Intron 22 Inversion: 300
Intron 22 Inversion: 300

HAEMOPHILIA B

306900

F9 (FACTOR 9)

306900

.

 620
HAILEY-HAILEY DISEASE
» PEMPHIGUS, BENIGN FAMILIAL		 169600 ATP2C1 604384   2700

HALLERVORDEN-SPATZ DISEASE
» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN
» NEUROAXONAL DYSTROPHY, JUVENILE-ONSET

234200

PANK2 (PANTOTHENATE KINASE 2)

606157

.

 500
PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604   1250
HAND-FOOT-GENITAL SYNDROME . See HAND-FOOT-UTERUS SYNDROME . . .

HAND-FOOT-UTERUS SYNDROME
» HAND-FOOT-GENITAL SYNDROME

140000

HOXA 13

142959

.

.		 510
HANHART DWARFISM   See PITUITARY DWARFISM 3      
HANHART DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED		   See PITUITARY DWARFISM 3      
HAPPLE SYNDROME   See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2      
HARDEROPORPHYRINURIA   See COPROPORPHYRIA      
HARLEQUIN ICHTHYOSIS   See ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE      
HARP SYNDROME (HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION) 607236 PANK2  (PANTOTHENATE KINASE 2) 606157

.

 500

HAW RIVER SYNDROME, HRS

140340

DRPLA (ATROPHIN 1)

125370

Repeat

 250

HAY-WELLS SYNDROME

.

See ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE

.

.

  

HEART BLOCK, FAMILIAL

113900

SCN5A

600163

See also LONG QT SYNDROME

 2800
HEART-HAND SYNDROME   See HOLT - ORAM SYNDROME, HOS1      
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 600263

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 		 107470   800

HEMANGIOMA

.

See CEREBELLAR HEMANGIOMA

.

.

  
HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY		 141200 COL4A3  120070  .   1550
COL4A4  120131 .   1550
HEMERALOPIA-MYOPIA   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A      
HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY   See PORENCEPHALY, FAMILIAL      
HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN   See HEMOCHROMATOSIS, JUVENILE      
HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS, TYPE 2, HFE2
» HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN		 602390 HAMP (HEPCIDIN ANTIMICROBIAL PEPTIDE)
 606464    600

HEMOCHROMATOSIS, TYPE 1, HFE1

235200

HFE

235200

Whole Gene or 4 Mutations (C282Y, H63D, S65C, E168X)

Whole Gene: 1000
4 Mutations: 280
HEMOCHROMATOSIS, TYPE 2, HFE2   See HEMOCHROMATOSIS, JUVENILE      
HEMOCHROMATOSIS, TYPE 4, HFE4 606069

SLC40A1 (FERROPORTIN 1, IREG1, SLC11A3)

 604653   Upon Request
HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   950
HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1		 235400 ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE) 604134   1440
CFH (HF1, COMPLEMENT FACTOR H) 134370   1250

MCP (MEMBRANE COFACTOR PROTEIN, MEASLES VIRUS RECEPTOR, CD46, MIC10, TLX, TRA2.10)

 120920    1050
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL PRF1, STX11, UNC13D     1800
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 603553 PRF1 (PERFORIN 1, PORE-FORMING PROTEIN) 170280  See also PRF1, STX11, UNC13D Upon Request
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 3, FHL3 608898 UNC13D (UNC13, C. ELEGANS, HOMOLOG OF, D, MUNC13-4)
 608897  See also PRF1, STX11, UNC13D Upon Request
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 4, FHL4 603552 STX11 (SYNTAXIN 11)
605014  See also PRF1, STX11, UNC13D Upon Request

HEPATIC ADENOMA

142330

HNF1A (TCF1)

142410

.

 700
HEPATIC AGT DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1      
HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY 220110

SCO1 (S. CEREVISIAE, HOMOLOG OF, CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF)

 603644  . 600
HEPATIC LIPASE DEFICIENCY
 151670

LIPC (HEPATIC LIPASE, LIPH, HEPATIC TRIGLYCERIDE LIPASE, HTGL)

 151670 . 850
HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE   MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH FACTOR RECEPTOR) 164860   2200
HEPATOLENTICULAR DEGENERATION . See WILSON DISEASE
 . . .
HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME   See GLYCOGEN STORAGE DISEASE, TYPE 11      
HEPATORENAL TYROSINEMIA   See TYROSINEMIA, TYPE 1      
HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA   See CEREBRAL AMYLOID ANGIOPATHY      
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC 605839 FH (FUMARATE HYDRATASE, FUMARASE) 136850 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes 640
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F      

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP
» TOMACULOUS NEUROPATHY

162500

PMP22 (PERIPHERAL MYELIN PROTEIN)

601097

Whole Gene or Deletion

 Whole Gene: 600
Deletion: 450
HEREDITARY PANCREATITIS 167800 CTRC (CHYMOTRYPSIN C, CALDECRIN) 601405   800
HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA   See EPISODIC ATAXIA, TYPE 2, EA2      
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA      
HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA LETALIS      

HERMANSKY-PUDLAK SYNDROME

203300

HPS1

604982

Whole Gene or 1 Mutation: 16bp Duplication

 Whole Gene: 1200
1 Mutation: 250

HPS3

606118

2 Mutations: 3.9kb Deletion and IVS5+1G>A Mutation

 250
HPS4 606682 Whole Gene 1200

HPS1 and HPS3

.

3 Mutations

450
HERS DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 6      
HETEROTAXY, VISCERAL (X-LINKED)
» SITUS INVERSUS (X-LINKED)		 306955 ZIC3  300265 . 550
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
» PERIVENTRICULAR NODULAR HETEROTOPIA 4		 300537 FLNA (FILAMIN A) 300017   Up to 5500, depending on amount of work
HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)
» PERIVENTRICULAR NODULAR HETEROTOPIA 1
» NODULAR HETEROTOPIA
» BILATERAL PERIVENTRICULAR
HETEROTOPIA
» PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA		 300049 FLNA (FILAMIN A) 300017   Up to 5500, depending on amount of work
HEXOSAMINIDASE ACTIVATOR DEFICIENCY   See TAY-SACHS DISEASE, AB VARIANT      
HEXOSAMINIDASE A DEFICIENCY   See TAY-SACHS DISEASE      
HEXOSAMINIDASES A AND B DEFICIENCY   See SANDHOFF DISEASE      

HIBERNIAN FEVER, FAMILIAL
» FAMILIAL PERIODIC FEVER (AUTOSOMAL DOMINANT)
» TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME, TRAPS

142680

TNFRSF1A (TNFR1)

191190

Exons 2-4 (> 95% of mutations)

 230
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME   See MOWAT-WILSON SYNDROME      

HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME, LATE INFANTILE

. 

 ZFHX1B (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) 605802

Whole Gene or MLPA

Whole Gene: 1100
MLPA: 1100

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 2 600155 EDNRB (ENDOTHELIN RECEPTOR, TYPE B) 131244   450

HIRSCHSPRUNG DISEASE, TYPE 1
» AGANGLIONIC MEGACOLON

142623 RET  (RET KINASE) 164761 Whole Gene 1950

HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA

.

PHOX2B

603851

.

 510
HLCS DEFICIENCY   See HOLOCARBOXYLASE SYNTHETASE DEFICIENCY      

HMG-COA LYASE DEFICIENCY
» HMG-COA SYNTHETASE DEFICIENCY

246450

HMGCL (HMG - COA SYNTHETASE)

246450

.

 1100

HNPCC

.

See COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS

.

.

  
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
» HLCS DEFICIENCY		 253270 HLCS (HOLOCARBOXYLASE SYNTHETASE; HCS) 609018   790

HOLOPROSENCEPHALY

.

SHH, SIX3, TGIF and ZIC2

.

Screening for Frequent Mutations in 4 Genes

 1800

HOLOPROSENCEPHALY 2, HPE2

157170

SIX3

603714

See also HOLOPROSENCEPHALY

 800

HOLOPROSENCEPHALY 3, HPE3

142945

SHH (SONIC HEDGEHOG)

600725

See also HOLOPROSENCEPHALY

 500

HOLOPROSENCEPHALY 4, HPE4

142946

TGIF

602630

See HOLOPROSENCEPHALY

  

HOLOPROSENCEPHALY 5, HPE5

603073

ZIC2 (ZINC FINGER PROTEIN OF CEREBELLUM, 2)

603073

See also HOLOPROSENCEPHALY

 800

HOLOPROSENCEPHALY 7, HPE7

601309

PTCH (PATCHED, PTC)

601309

.

 1950

HOLT-ORAM SYNDROME, HOS1
» HEART-HAND SYNDROME

142900

TBX5 (T-BOX 5)

601620

Whole Gene or Deletions

 Whole Gene: 495
Deletions: 350
HOMOCYSTINURIA
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY		 236200 CBS (CYSTATHIONINE BETA-SYNTHASE) 236200 Whole Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR) Whole Gene: 1200
Exons 4 and 8: 400
HOPF DISEASE . See ACROKERATOSIS VERRUCIFORMIS .    

HOYERAAL-HREIDARSSON SYNDROME

300240

DKC1 (DYSKERIN)

300126

.

 1750
HPRT DEFICIENCY    See LESCH - NYHAN SYNDROME, LNS      
HPRT1 DEFICIENCY   See LESCH - NYHAN SYNDROME, LNS      
HSAN1   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1      

HUNTER SYNDROME

.

See MUCO-POLYSACCHARIDOSIS, TYPE 2

.

.

  

HUNTINGTON CHOREA

143100

HD (HUNTINGTIN)

143100

Repeat

 300
HUNTINGTON DISEASE-LIKE 1, HDL1 603218 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 450
HUNTINGTON DISEASE-LIKE 2, HDL2 606438

JPH3 (JUNCTOPHILIN 3)

 605268  Repeat 350
HUNTINGTON DISEASE-LIKE 4, HDL4   See SPINOCEREBELLAR ATAXIA 17, SCA17      
HURLER SYNDROME   See MUCOPOLYSACCHARIDOSIS, TYPE IH      
HURLER-SCHEIE SYNDROME   See MUCOPOLYSACCHARIDOSIS, TYPE IH/S      
HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 LMNA (LAMIN A/C) 150330   700

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS, HSAS
» AQUEDUCTAL STENOSIS (X-LINKED)

307000

L1 (L1CAM)

308840

.

 900
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY   N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY      
HYPERANDROGENISM
 . CYP21A2 201910

Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg

 Whole Gene and MLPA: 800
6 most common mutations: 400
HYPERCHOLESTEROLEMIA 144010 APOB (APOLIPOPROTEIN B) 107730 3 mutations: R3500Q, R3500W, H3543Y 250

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT)

143890

LDLR  (LDL RECEPTOR)

606945

Whole Gene LDLR + 3 Exons in APOB

 1000
HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B
» APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE 		144010 APOB (APOLIPOPROTEIN B, APOB100,
APOB48) 		 107730 2 Mutations: R3500Q  and R3531C 250
HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813 ARH 605747   800
HYPERCHYLOMICRONEMIA 207750 APOC2 (APOLIPOPROTEIN C2) 207750   400
HYPERCHYLOMICRONEMIA   See HYPERLIPOPROTEINEMIA TYPE 1      

HYPEREKPLEXIA
» STARTLE DISEASE
» KOK DISEASE
» STIFF BABY SYNDROME

149400

GLRA1 (GLYCIN RECEPTOR )

138491

 

 900
HYPERFERRITINEMIA-CATARACT SYNDROME 600886 FTL (FERRITIN LIGHT CHAIN) 134790   300
HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA   See PROPIONIC ACIDEMIA      
HYPERGONADOTROPIC HYPOGONADISM, FEMALE . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   		 152790   1000

HYPER-IgD SYNDROME
» PERIODIC FEVER, DUTCH TYPE

260920

MVK (MEVALONATE KINASE)

251170

.

 500
HYPER-IgE SYNDROME (AUTOSOMAL DOMINANT)   See HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)      
HYPER-IgM IMMUNODEFICIENCY (X-LINKED) . See IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1, HIGM1 .    
HYPER-IgM SYNDROME   See IMMUNODEFICIENCY WITH HYPER-IgM      
HYPER-IgM SYNDROME 1 . See IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1, HIGM1 .    
HYPER-IgM SYNDROME 2   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2      
HYPER-IgM SYNDROME 3   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3      
HYPER-IgM SYNDROME 5   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5      
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)
» JOB SYNDROME
» HYPER-IgE SYNDROME (AUTOSOMAL DOMINANT)		 147060 STAT (SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; ACUTE-PHASE RESPONSE FACTOR;) 102582 Common Mutations: Exons 13, 14, 15, 16, 20 and 21 800
HYPERINSULINEMIA   See HYPERPROINSULINEMIA      
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
»HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

 256450 ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) 600509   1400
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 3 602485 GCK  (GLUCOKINASE) 138079   600
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 5 609968 INSR (INSULIN RECEPTOR) 147670   2400

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6
»HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

 606762

GLUD1 (GLUTAMATE DEHYDROGENASE 1)

 138130  Exons 6, 7, 10, 11 and 12 550
HYPERINSULINISM (AUTOSOMAL RECESSIVE)   See NESIDIOBLASTOSIS      
HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
See NESIDIOBLASTOSIS      
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      

HYPERKALEMIC PERIODIC PARALYSIS, HYPP
» MYOTONIA CONGENITA, ATYPICAL

170500

SCN4A

603967

Exons 9, 12-14, 19, 21-24

 900
HYPERKERATOSIS-CONTRACTURE SYNDROME   See TIGHT SKIN CONTRACTURE SYNDROME, LETHAL      
HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS . See CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS . . .
HYPERKERATOSIS, EPIDERMOLYTIC . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . . .
HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA . See EPIDERMOLYTIC PALMOPLANTAR KERATODERMA . . .
HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . . .
HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA . See NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA . . .

HYPERKERATOSIS, PALMOPLANTAR KERATODERMA WITH DEAFNESS

..

See PALMOPLANTAR KERATODERMA WITH DEAFNESS

.

.

  
HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS   See CEREBRAL CAVERNOUS MALFORMATIONS, CCM1      
HYPERLIPOPROTEINEMIA TYPE 1
» LIPOPROTEIN LIPASE DEFICIENCY
» HYPERCHYLOMICRONEMIA		 238600 LPL (LIPOPROTEIN LIPASE) 238600   853
HYPERLIPOPROTEINEMIA, TYPE 3   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      

HYPEROXALURIA, PRIMARY, TYPE 1
» OXALOSIS 1
» GLYCOLIC ACIDURIA
» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY
» HEPATIC AGT DEFICIENCY
» SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY

 259900

AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)

 604285 Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations) Whole Gene: 700
3 Exons: 300

HYPEROXALURIA, PRIMARY, TYPE 2
» OXALOSIS 2
» GLYCERIC ACIDURIA
» GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY
» D-GLYCERATE DEHYDROGENASE DEFICIENCY

 260000

GRHPR (GLYOXYLATE REDUCTASE / HYDROXYPYRUVATE REDUCTASE, GLXR)

 604296 Whole Gene or 2 Mutations: 103delG and c.403_405+2delAAGT Whole Gene: 700
2 Mutations: 250

HYPERPHENYLALANINEMIA

.

See PHENYLKETONURIA

.

.

  
HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY      
HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL   See PSEUDOHYPOALDOSTERONISM, TYPE 2      
HYPERPROINSULINEMIA
» HYPERINSULINEMIA		 176730 INS (INSULIN, PROINSULIN) 176730   350
HYPERPROSTAGLANDIN E SYNDROME 1   See BARTTER SYNDROME, ANTENATAL, TYPE 1      
HYPERPROSTAGLANDIN E SYNDROME, TYPE 2   See ANTENATAL BARTTER SYNDROME, TYPE 2      
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
HYPERTENSION, EARLY-ONSET (AUTOSOMAL DOMINANT) 605115 NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, MR, ALDOSTERONE RECEPTOR) 600983   600
HYPERTENSIVE HYPERKALEMIA, FAMILIAL   See PSEUDOHYPOALDOSTERONISM, TYPE 2      
HYPERTHYROIDISM   TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372   500
HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION   See THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY      
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES   See THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL DOMINANT)      
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		   ACTC
MYL2
MYL3		 . 19 Exons 1100

MYH7
MYBPC3
TNNT2
TNNI3
TPM1

 . 106 Exons 2100
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		 192600 ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN) 102540 See ACTC, MYL2 and MYL3  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 192600 MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) 160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 2, CMH2
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 115195 TNNT2  191045 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 3, CMH3
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 115196

TPM1 (TROPOMYOSIN 1)

191010

See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 115197 MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC) 600958 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 7, CMH7
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 191044 TNNI3 (TROPONIN I, CARDIAC) 191044  See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1

 608751

MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT CHAIN OF MYOSIN)

 160790  See ACTC, MYL2 and MYL3  

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2

 608758

MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW)

 160781  See ACTC, MYL2 and MYL3  
HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL      
HYPOADRENALISM WITH ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1      
HYPO-ALPHALIPOPROTEINEMIA 604091 APOA1 (APOLIPOPROTEIN A-1) 107680 L178P Mutation 400

HYPO-ANHIDROTIC ECTODERMAL DYSPLASIA (X-LINKED), ED1

305100

ED1  (ECTODYSPLASIN A, EDA)

300451

.

 1100
HYPOBETALIPOPROTEINEMIA, FAMILIAL
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
» FAMILIAL HYPOBETALIPOPROTEINEMIA
» ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA		 107730 APOB (APOLIPOPROTEIN B, APOB100,
APOB48) 		 107730 Whole Gene 3950

HYPOCALCEMIA (AUTOSOMAL DOMINANT)

601198

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

.

 550
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS . See VITAMIN D-DEPENDENT RICKETS, TYPE 2A . . .

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1
» FAMILIAL BENIGN HYPERCALCEMIA 1

145980

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

.

 550
HYPOCHONDROGENESIS   COL2A1 120140   1250

HYPOCHONDROPLASIA

146000

FGFR3

134934

7 Mutations: I538V, N540T, N540S, N540K, K650N, K650M, K650Q

 400
HYPODONTIA/OLIGODONTIA 3
» TOOTH AGENESIS, SELECTIVE, 3		 604625 PAX9 (PAIRED BOX GENE 9) 167416   300
HYPOGAMMAGLOBULINEMIA, ACQUIRED   See COMMON VARIABLE IMMUNODEFICIENCY      
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 1   See KALLMANN SYNDROME, TYPE 1, KAL1      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPR 2   See KALLMANN SYNDROME TYPE 2, KAL2      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 3   See KALLMANN SYNDROME, TYPE 3, KAL3      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 4   See KALLMANN SYNDROME, TYPE 4, KAL4      

HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE)
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE)

224900

EDAR (ECTODYSPLASIN 1)

604095

.

 1400
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) 606603   1600

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY

300291

IKBKG (NEMO)

300248

Whole Gene or 1 Mutation: Exon 4-10 Deletion

 Whole Gene and Common Deletion: 900
Common Deletion: 450
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1   See BARTTER SYNDROME, ANTENATAL, TYPE 1      
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2   See ANTENATAL BARTTER SYNDROME, TYPE 2      

HYPOKALEMIC PERIODIC PARALYSIS, HOKPP

170400

CACNA1S (CACNL1A3)

114208

3 Mutations: R528H, R1239H, R1239G or
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations

 3 Mutations: 160
Exons: 350

SCN4A

603967

Exons 9, 12-14, 19, 21-24

 900
HYPOLACTASIA   See LACTOSE INTOLERANCE      
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA   See GITELMAN SYNDROME      
HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA   See HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA      

HYPOMAGNESEMIA, PRIMARY
» MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF

248250

CLDN16 (CLAUDIN 16, PARACELLIN 1)

 603959    500
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA		 248190 CLDN19 (CLAUDIN 19) 610036   375
HYPOMAGNESEMIA, TYPE 2, RENAL 154020 FXYD2 (FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2, SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE) 601814   375
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
» HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA		 300523 TRPM6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6;CHANNEL KINASE 2; CHAK2 MELASTATIN-RELATED TRP CATION CHANNEL 6) 300095   1700
HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY   See HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME      

HYPOPARATHYROIDISM, FAMILIAL ISOLATED

146200

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

.

 550

HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
» HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
» SANJAD-SAKATI SYNDROME
» HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY

  241410 TBCE (TUBULIN-SPECIFIC CHAPERONE E) 604934 Whole Gene or 12 bp Deletion in Exon 2 Whole Gene: 950
12 bp Deletion: 200
HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES   See HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME      
HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE)   See HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE)      

HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT)
» RICKETS, HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT)

193100

FGF23 (FIBROBLAST GROWTH FACTOR 23)

605380

.

 300
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE)
» HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE)		 241520 DMP1 (DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1) 600980   1000

HYPOPHOSPHATEMIC RICKETS (X-LINKED)
» VITAMIN D-RESISTANT RICKETS (X-LINKED)
» RICKETS, HYPOPHOSPHATEMIC RICKETS (X-LINKED)

307800

PHEX

307800

Whole Gene Sequencing or Deletion-Duplication

 Whole Gene: 750
Deletion-Duplication: 500

HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE

137920

HNF1B (HNF2, TCF2)

189907

.

 600
HYPOPLASTIC LEFT HEART SYNDROME 241550 GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN 43, CX43) 121014    330
HYPOPROCONVERTINEMIA   See FACTOR 7 DEFICIENCY      

HYPOSPADIAS (X-LINKED)

.

AR (ANDROGEN RECEPTOR)

313700

.

 495
HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY   See PALLISTER-HALL SYNDROME      
HYPOTHYROIDISM   TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372   500
HYPOTHYROIDISM, ATHYREOTIC   See HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2      
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE   See BAMFORTH-LAZARUS SYNDROME      
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS   See HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2      

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2
» THYROID DYSGENESIS
» THYROID AGENESIS
» THYROID HYPOPLASIA
» THYROID, ECTOPIC
» HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
» HYPOTHYROIDISM, ATHYREOTIC
» THYROTROPIN RESISTANCE

 218700

PAX8 (PAIRED BOX GENE 8)

 167415   1000

HYPOURICEMIA, RENAL
» DALMATIAN HYPOURICEMIA
» RENAL HYPOURICEMIA
» URIC ACID UROLITHIASIS

220150

SLC22A12 (SOLUTE CARRIER FAMILY 22, URATE TRANSPORTER, MEMBER 12,  ORGANIC ANION TRANSPORTER 4-LIKE, OAT4L, URATE TRANSPORTER 1, URAT1

 607096    700
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY   See LESCH - NYHAN SYNDROME, LNS      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

I

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
I-CELL DISEASE   See MUCOLIPIDOSIS, TYPE2, ML2      

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» BROCQ SYNDROME
» EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» HYPERKERATOSIS, EPIDERMOLYTIC HYPERKERATOSIS

113800

KRT1 (KERATIN 1)

139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT10 (KERATIN 10)

148080

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT2E (KERATIN 2E)

600194

.

 1000

KRT1 and KRT10 (KERATIN 1 and KERATIN 10)

.

Hotspots

 800
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100 

ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE)

 603741   1600

ALOXE3 (ARACHIDONATE LIPOXYGENASE 3,  LIPOXYGENASE TYPE 3)

 607206   1600

TGM1 (TRANSGLUTAMINASE)

190195

.

 1400
ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS   See CHILD SYNDROME      
ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION   See CHANARIN-DORFMAN DISEASE      

ICHTHYOSIS BULLOSA (SIEMENS)

146800

KRT1 (KERATIN 1)

139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT10 (KERATIN 10)

148080

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT2E (KERATIN 2E)

600194

.

 1000

KRT1 and KRT10  (KERATIN 1 and KERATIN 10)

.

Hotspots

 800
ICHTHYOSIS CONGENITA 2B   See ICHTHYOSIS, LAMELLAR, 2, LI2      
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
» HARLEQUIN ICHTHYOSIS		 242500

ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)

607800 Whole Gene 4900
ICHTHYOSIS, LAMELLAR, 2, LI2
» LAMELLAR ICHTHYOSIS, TYPE 2
» ICHTHYOSIS CONGENITA 2B		 601277

ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)

607800 5 Exons: 28-32 700
ICHTHYOSIS SIMPLEX   See ICHTHYOSIS VULGARIS      
ICHTHYOSIS VULGARIS
» ICHTHYOSIS SIMPLEX

146700

 FLG (FILAGGRIN, PROFILAGGRIN)
 135940  7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X or
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X )		 7 Mutations: 800
2 Common Mutations: 250
ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE   See CHANARIN-DORFMAN DISEASE      
IDDM-MED SYNDROME   See EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS      

IDIOPATHIC VENTRICULAR FIBRILLATION

603829

SCN5A

600163

See also LONG QT SYNDROME

 1995
ILLIG-TYPE GROWTH HORMONE DEFICIENCY   See PITUITARY DWARFISM 1      
IMMOTILE CILIA SYNDROME   See PRIMARY CILIARY DYSKINESIA, TYPE 3      
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON 186830

CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3)

 186830   800
IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
IMMUNODEFICIENCY WITH HYPER-IgM . AICDA, CD40, CD40LG, UNG .   2900
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1, HIGM1
» HYPER-IgM IMMUNODEFICIENCY (X-LINKED)
» HYPER-IgM SYNDROME 1		 308230 TNFSF5 (TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5, CD40 LIGAND, TRAP, GP39) 300386   560

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
» HYPER-IgM SYNDROME 2

 605258

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)

 605257   1600

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
» HYPER-IgM SYNDROME 3

 606843

CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE CD40 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5, TNFRSF5)

 109535   1000

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
» HYPER-IgM SYNDROME 5

 608106

UNG (URACIL-DNA GLYCOSYLASE)

 191525   1000

IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX
» X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME
» IDDM-SECRETORY DIARRHEA SYNDROME
» AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME
» DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME
» ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY
» POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA
» DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA
» IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY

 304790

FOXP3 (FORKHEAD BOX P3, SCURFIN)

 300292    670
IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET   See COMMON VARIABLE IMMUNODEFICIENCY      
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE 242900 SMARCAL1 (SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1)
606622    2000
INCLUSION BODY MYOPATHY 2 (AUTOSOMAL RECESSIVE), IBM2 600737 GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) 603824 Whole Gene or 1 Mutation Whole Gene: 750
1 Mutation: 400

INCONTINENTIA PIGMENTI

.

See BLOCH-SULZBERGER DISEASE

.

.

  
INFANTILE AGRANULOCYTOSIS   See NEUTROPENIA, SEVERE CONGENITAL, SCN      
INFANTILE PHYTANIC ACID STORAGE DISEASE   See REFSUM DISEASE, INFANTILE FORM      
INFANTILE SIALIC ACID STORAGE DISORDER
» SIALURIA, INFANTILE FORM
» N-ACETYLNEURAMINIC ACID STORAGE DISEASE
» NANA STORAGE DISEASE		 269920 SLC17A5  600760   580
INFANTILE SPASMS (X-LINKED), ISS X
» WEST SYNDROME
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

ARX

300382

See also Mental Retardation Panel

 790
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)     1490

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA
» NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4
» FAMILIAL DYSAUTONOMIA, TYPE 2

 256800

NTRK1

 191315   1250
INSOMNIA-DYSAUTONOMIA
» FAMILIAL FATAL INSOMNIA		 600072 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 450
INSULIN RESISTANCE   INSR (INSULIN RECEPTOR) 147670   2400
INSULIN RESISTANCE, SUSCEPTIBILITY TO   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      
INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY   See SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 3      
INTRACTABLE CHILDHOOD EPILEPSY WITH GENERALISED TONIC-CLONIC SEIZURES (ICEGTC)   SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene or Deletions-Duplications Whole Gene: 1820
Deletions-Duplications: 600
INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST   See INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1      
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1
» INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST		 610799 IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4) 606883   1300
IRAK4 DEFICIENCY 607676 IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4) 606883   1300

IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA

 137600 FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) 601090 Whole Gene Sequencing or Deletion-Duplication Whole Gene: 550
Deletion-Duplication: 500
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) 601542 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 500
Deletion-Duplication: 500
IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA   See IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2      
ISAACS-MERTENS SYNDROME   See EPISODIC ATAXIA, TYPE 1, EA1      
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY   See ISOBUTYRYL GLYCINURIA      

ISOBUTYRYL GLYCINURIA
» ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
» ACAD8 DEFICIENCY

604773

ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)

604773

   850
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2   See PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)      
ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY   See ISOVALERIC ACIDEMIA      
ISOVALERIC ACIDEMIA
» ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY		 243500 IVD (ISOVALERYL-CoA DEHYDROGENASE) 607036   Upon Request
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

J

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €

JACKSON-LAWLER DISEASE
» PACHYONYCHIA CONGENITA, TYPE 2

167210

KRT17 (KERATIN 17)

148069

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT6B (KERATIN 6B)

148042

.

 1000

JACKSON-WEISS SYNDROME
» CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

123150

FGFR1

136350

.

 500

FGFR2

176943

.

 500

JADASSOHN-LEWANDOWSKY SYNDROME
» PACHYONYCHIA CONGENITA, TYPE 1

167200

KRT16 (KERATIN 16)

148067

.

 1000

KRT6A (KERATIN 6A)

148041

.

 1000

JANSKY-BIELSCHOWSKY DISEASE

.

See CEROID LIPOFUCSINOSIS, CLN2

.

.

  
JENSEN SYNDROME
» OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA		 311150 TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) 300356   400

JERVELL AND LANGE-NIELSEN SYNDROME, JLNS1

220400

 KCNE1 (MINK, ISK) 176261 See also LONG QT SYNDROME 150
KCNQ1 (KVLQT1) 192500 1580
JOB SYNDROME   See HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)      

JOHANSON-BLIZZARD SYNDROME
» NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS

243800

UBR1 (UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1)

605981

  

200
JOUBERT SYNDROME, TYPE 3 608629 AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN)
 608894    1200
JOUBERT SYNDROME, TYPE 4 609583 NPHP1 (NEPHROCYSTIN 1) 607100   1200
JOUBERT SYNDROME, TYPE 5 610188 CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6) 610142   1400
JOUBERT SYNDROME, TYPE 6 610688 MSK3 (MECKELIN, TMEM67, TRANSMEMBRANE PROTEIN 67) 609884   1500
JOUBERT SYNDROME, TYPE 7 611560 RPGRIP1L (RPGRIP1-LIKE) 610937   1500
JUBERG-MARSIDI SYNDROME
» MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)		 309590 ATRX (XNP) 300032 Blood in RNA PAX tubes 1500
JUVENILE MYELOMONOCYTIC LEUKEMIA, JMML 607785 PTPN11 176876 Exons 3 and 13 300
JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS   See SENIOR-LOKEN SYNDROME      
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
» POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION		 175050 SMAD4 (DPC4) 600993   950
JUVENILE POLYPOSIS SYNDROME 174900

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

 601299   2100
SMAD4 (DPC4) 600993   950
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

K

Boala
Boala OMIM
Gena
Gena OMIM
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KALLMANN SYNDROME, TYPE 1, KAL1
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 1
» DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
» ANOSMIC HYPOGONADISM		 308700 KAL1 (ADHESION MOLECULE-LIKE, X-LINKED, ANOSMIN 1)
 308700    1600
KALLMANN SYNDROME TYPE 2, KAL2 
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 2		 147950 FGFR1 136350

Whole Gene

 2400
KALLMANN SYNDROME, TYPE 3, KAL3
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 3		 244200 PROKR2 (PROKINETICIN RECEPTOR 2; G PROTEIN-COUPLED RECEPTOR 73-LIKE 1) 607123   1000
KALLMANN SYNDROME, TYPE 4, KAL4
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 4		 610628 PROK2 (PROKINETICIN 2) 607002   800
KARAK SYNDROME 608395 PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604   1250
KARTAGENER SYNDROME
» DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
» SIEWERT SYNDROME		 244400 DNAH5 (DYNEIN, AXONEMAL, HEAVY CHAIN 5) 603335 All 61 known Mutations in DNAH5 and DNAI1 800
DNAI1 (DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1) 604366 All 61 known Mutations in DNAH5 and DNAI1 800
KELLEY-SEEGMILLER SYNDROME   See METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY      

KENNEDY DISEASE
» SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA

313200

AR (ANDROGEN RECEPTOR)

313700

Repeat

 150
KENNY-CAFFEY SYNDROME, TYPE 1, KCS1 (AUTOSOMAL RECESSIVE) 244460 TBCE (TUBULIN-SPECIFIC CHAPERONE E) 604934 Whole Gene or 12 bp Deletion in Exon 2 Whole Gene: 950
12 bp Deletion: 200

KERATITIS

148190

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 1500
MLPA: 600

KERATITIS-ICHTHYOSIS-DEAFNESS

148210

GJB2 (CONNEXIN 26, CX26)

121011

.

 200
KERATOCONUS 1, KTCN1 148300 VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)     850
KERATOSIS FOLLICULARIS . See DARIER-WHITE DISEASE .    
KERATOSIS PALMOPLANTARIS STRIATA, TYPE 2 125647 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500
KETO ACID DECARBOXYLASE DEFICIENCY   See MAPLE SYRUP URINE DISEASE      
KETOTIC HYPERGLYCINEMIA   See PROPIONIC ACIDEMIA      
KINDLER SYNDROME
» POIKILODERMA, HEREDITARY ACROKERATOTIC
» BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY
» POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE		 173650 KIND1 (KINDLIN 1) 607900   1500
KING SYNDROME . See MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1, MHS1 . . .

KINKY HAIR DISEASE

.

See MENKES DISEASE

.

.

  
KJER TYPE OPTIC ATROPHY   See OPTIC ATROPHY 1      

KLEIN-WAARDENBURG SYNDROME

.

See WAARDENBURG SYNDROME

.

.

  

KNIEST DYSPLASIA
» METATROPIC DWARFISM

156550

COL2A1

120140

.

 1250
KOSTMANN DISEASE   See NEUTROPENIA, SEVERE CONGENITAL, SCN      
KOWARSKI SYNDROME   See PITUITARY DWARFISM 4      

KRABBE DISEASE
» GLOBOID CELL LEUKODYSTROPHY
» GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY
» GALACTOCEREBROSIDASE DEFICIENCY

245200

GALC (GALACTOSYL CERAMIDASE, GALACTOCEREBROSIDASE)

606890

   400
KRAUSE-KIVLIN SYNDROME   See PETERS-PLUS SYNDROME      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

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Boala
Boala OMIM
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Gena OMIM
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LACTASE NONPERSISTENCE   See LACTOSE INTOLERANCE      
LACTIC ACIDOSIS, FATAL INFANTILE 245400 SUCLG1 (SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1) 611224   650
LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS . See GRACILE SYNDROME      

LACTOSE INTOLERANCE
» HYPOLACTASIA
» DISACCHARIDE INTOLERANCE
» ADULT LACTASE DEFICIENCY
» LACTASE NONPERSISTENCE

 223100

LCT (LACTASE)

 603202 T13910C 260
LAFORA DISEASE   See MYOCLONIC EPILEPSY OF LAFORA      
LAING DISTAL MYOPATHY   See MYOPATHY, DISTAL 1, MPD1      

LAMELLAR ICHTHYOSIS

.

See COLLODION FETUS

.

.

  
LAMELLAR ICHTHYOSIS, TYPE 2   See ICHTHYOSIS, LAMELLAR, 2, LI2      

LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

.

See FACIO-SCAPULOHUMERAL MUSCULAR DYSTROPHY

.

.

  
LANGER MESOMELIC DYSPLASIA
» DYSCHONDROSTEOSIS, HOMOZYGOUS
» MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE		 249700  SHOX (SHORT STATURE HOMEOBOX) 312865 Whole Gene or MLPA for Deletions-Duplications of SHOX and PAR1 Whole Gene: 495
MLPA: 500
LARON SYNDROME   See PITUITARY DWARFISM 2      
LARSEN SYNDROME (AUTOSOMAL DOMINANT) 150250 FLNB (FILAMIN B) 663381   1900
LCAT DEFICIENCY   See LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY      
LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 604210 CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) 604210   1275
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL BLINDNESS, CONGENITAL		 204000 CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6) 610142   1400
RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) 605446   900
LEBER CONGENITAL AMAUROSIS, TYPE 2, LCA2 204100 RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD) 180069   450
LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3
» AMAUROSIS CONGENITA OF LEBER 3		 604232

RDH12 (RETINOL DEHYDROGENASE 12)

608830   570
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
» LCAT DEFICIENCY
» NORUM DISEASE

245900

 LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE)

606967

   450
LEIGH SYNDROME 256000 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 . 600
COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) 602125 . 650

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

 603646 . 1200
NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) 157655 . 1200
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) 603846 . 1200
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) 602694 . 1200
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) 601825 . 1200
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) 602141 . 1200
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) 161015 . 1200
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) 300502   1000
SCO2 604272   350
SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) 600857 . 1200
SURF1 (SURFEIT 1)
 185620 . 750

LEOPARD SYNDROME, TYPE 1

151100

PTPN11

176876

Whole Gene

 700
LEOPARD SYNDROME, TYPE 2 611554 RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1) 164760   1800

LEPRECHAUNISM
» DONOHUE SYNDROME

 246200 INSR (INSULIN RECEPTOR) 147670   2400
LERI-WEILL DYSCHONDROSTEOSIS
» DYSCHONDROSTEOSIS
» MADELUNG DEFORMITY
 127300  SHOX (SHORT STATURE HOMEOBOX) 312865 Whole Gene or MLPA for Deletions-Duplications of SHOX and PAR1 Whole Gene: 495
MLPA: 500

LESCH - NYHAN SYNDROME, LNS
» HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
» HPRT1 DEFICIENCY
» HPRT DEFICIENCY

300322

 HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) 308000   400
LEUKEMIA, ACUTE LYMPHOBLASTIC   NBS1 (NIBRIN) 602667 Exon 6, including 657del5 Mutation 250
LEUKEMIA, ACUTE MYELOGENOUS   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450

LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD
» LFA1 IMMUNODEFICIENCY

 116920

ITGB2 (INTEGRIN, BETA-2)

 600065   1800
LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY   See BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE      
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B1 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1) 606686   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B2 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2) 606454   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3) 606273   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B4 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4) 606687   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B5 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5) 603945   520
LEWY BODY DEMENTIA 127750 SNCA (ALPHA SYNUCLEIN) 163890 Whole Gene or Deletions Whole Gene: 450
Deletions: 450
LEWY BODY PARKINSONISM   See PARKINSON DISEASE, TYPE 1, PARK1 (AUTOSOMAL DOMINANT)      
LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   		 152790   1000
LFA1 IMMUNODEFICIENCY   See LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD      

LHERMITTE-DUCLOS DISEASE

.

See COWDEN DISEASE

.

.

  
LIDDLE SYNDROME
» PSEUDOALDOSTERONISM		 177200 SCNN1B 600760   900
SCNN1G (SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT, SCNEG) 600761   900

LI-FRAUMENI SYNDROME 1

151623

TP53 (TUMOR PROTEIN p53)

191170

Whole Gene or Exons 5-8

 Whole Gene: 350
Exons 5-8: 250
LI-FRAUMENI SYNDROME 2 609265 CHEK2 (CHECKPOINT KINASE 2) 604373   800

LIMB-MAMMARY SYNDROME

603543
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME   See ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY      
LIPOAMIDE DEHYDROGENASE DEFICIENCY 246900 LAD (LIPOAMIDE DEHYDROGENASE) 246900 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes 620
LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO   See MAPLE SYRUP URINE DISEASE      
LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY AND LEUKOMELANODERMIC PAPULES, LDHCP 608056 LMNA (LAMIN A/C) 150330   700
LIPODYSTROPHY, DUNNIGAN TYPE . See LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2 .    
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2
» LIPODYSTROPHY, DUNNIGAN TYPE
 151660 LMNA (LAMIN A/C) 150330   700
LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM   See LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2      
LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA   See MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY      
LIPOMUCOPOLYSACCHARIDOSIS   See NEURAMINIDASE DEFICIENCY      
LIPOPROTEIN LIPASE DEFICIENCY   See HYPERLIPOPROTEINEMIA TYPE 1      

LISSENCEPHALY (X-LINKED)

.

See DOUBLE CORTEX SYNDROME

.

.

  

LISSENCEPHALY 1, LIS1
» SUBCORTICAL LAMINAR HETEROTOPIA
» SUBCORTICAL BAND HETEROTOPIA

607432

PAFAH1B1 (LIS1)

601545

Whole Gene or Deletions

 Whole Gene: 1100
Deletions: 350

LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED)

300215

ARX

300382

See also Mental Retardation Panel

 790
LIVER GLYCOGENOSIS (X-LINKED)   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
LIVER GLYCOGEN SYNTHASE DEFICIENCY   See GLYCOGEN STORAGE
DISEASE, TYPE 0		      
LIVER PHOSPHORYLASE KINASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
LOEYS-DIETZ SYNDROME 609192 TGFBR1 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 1, ALK5) 190181 See also TGFBR1 and
TGFBR2		 700
TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 See also TGFBR1 and
TGFBR2		 700
TGFBR1 and
TGFBR2		   1200
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD DEFICIENCY 609016 HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT,
LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD)		 600890 Whole Gene or 2 Common Mutations: (1528G>C and 1132C>T) Whole Gene: 1200
2 Common Mutations: 300
LONG QT SYNDROME

LONG QT PANEL 1:
- KCNQ1
- HERG

   9 Exons with Mutation Hotspots 850
LONG QT PANEL 2:
- KCNQ1
- HERG
- SCN5A
- KCNE1
- KCNE2 		  20 Exons with Mutation Hotspots 1850
LONG QT PANEL 3:   All 65 Exons 5500

LONG QT SYNDROME 1, LQT1
» ROMANO-WARD SYNDROME

192500

KCNQ1 (KVLQT1)

192500

See also LONG QT SYNDROME

 1580

LONG QT SYNDROME 2, LQT2
» ROMANO-WARD SYNDROME

152427

HERG

152427

See also LONG QT SYNDROME

 1400

LONG QT SYNDROME 3, LQT3
» ROMANO-WARD SYNDROME

603830

SCN5A

600163

See also LONG QT SYNDROME

 2800

LONG QT SYNDROME 5, LQT5
» ROMANO-WARD SYNDROME

176261

KCNE1 (MINK, ISK)

176261

See also LONG QT SYNDROME

 150

LONG QT SYNDROME 6, LQT6
» ROMANO-WARD SYNDROME

603796

KCNE2

603796

See also LONG QT SYNDROME

 150

LOU GEHRIG'S DISEASE

.

See AMYOTROPHIC LATERAL SCLEROSIS

.

.

  
LOUIS-BAR SYNDROME . See ATAXIA-TELANGIECTASIA, AT .    

LOWE OCULOCEREBRORENAL SYNDROME, OCRL 

309000

OCRL1

309000.

   800
LUJAN-FRYNS SYNDROME 309520 UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) 300298   1500
LUNG CANCER, SQUAMOUS CELL   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450
LYMPHEDEMA AND PTOSIS 153000 FOXC2 (FORKHEAD BOX C2) 602402   Upon Request
LYMPHEDEMA-DISTICHIASIS SYNDROME 153200 FOXC2 (FORKHEAD BOX C2) 602402   Upon Request
LYMPHEDEMA, HEREDITARY, TYPE 1
» NONNE-MILROY LYMPHEDEMA
» MILROY DISEASE
» PRIMARY CONGENITAL LYMPHEDEMA		 153100 FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, VEGFR3) 136253 Whole Gene or 8 Exons: Exons 18-25, representing 90% of reported mutations Whole Gene: Upon Request
8 Exons: Upon Request
LYMPHEDEMA, HEREDITARY, TYPE 2
» MEIGE LYMPHEDEMA		 153400 FOXC2 (FORKHEAD BOX C2) 602402   Upon Request
LYMPHOMA, NON-HODGKIN   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   1000

LYMPHOPROLIFERATIVE SYNDROME
» LYMPHOPROLIFERATIVE DISEASE (X-LINKED)

308240

SH2D1A

308240

.

 330

LYNCH CANCER FAMILY SYNDROME

.

See COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS

.

.

  

LYSINURIC PROTEIN INTOLERANCE
» DIBASICAMINO ACIDURIA, TYPE 2

 222700

SLC7A7 (SOLUTE CARRIER FAMILY 7, MEMBER 7)

 603593    800
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

M

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €

MACHADO-JOSEPH DISEASE

.

See SPINOCEREBELLAR ATAXIA 3

.

.

  
MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS   See FECHTNER SYNDROME      
MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS   See EPSTEIN SYNDROME      
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE   See BERNARD-SOULIER SYNDROME      
MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS   See MAY-HEGGLIN ANOMALY      
MACROTHROMBOCYTOPENIA (X-LINKED)   See DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA      
MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA   See HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT      
MACULAR DEGENERATION, JUVENILE   See STARGARDT DISEASE, TYPE 1      
MACULAR DYSTROPHY   PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400
MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY   See PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM      
MACULAR DYSTROPHY, CONCENTRIC ANNULAR
» BULL'S EYE MACULAR DYSTROPHY
 153870 VMD2 (VITELLIFORM MACULAR DYSTROPHY GENE 2, BESTROPHIN) 607854   950

MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
» FOVEOMACULAR DYSTROPHY, ADULT-ONSET

 608161 PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400
MACULAR DYSTROPHY, VITELLIFORM, VMD
» BEST MACULAR DYSTROPHY
 153700 VMD2 (VITELLIFORM MACULAR DYSTROPHY GENE 2, BESTROPHIN) 607854   950
MACULAR DYSTROPHY WITH FLECKS, TYPE 1   See STARGARDT DISEASE, TYPE 1      
MADELUNG DEFORMITY   See LERI-WEILL DYSCHONDROSTEOSIS      
MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF   See HYPOMAGNESEMIA, PRIMARY      
MALE PSEUDOHERMAPHRODITISM DUE TO 5–ALPHA-REDUCTASE DEFICIENCY   See PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH      
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1, MHS1
» KING SYNDROME
 145600 RYR1 (RYANODINE RECEPTOR 1) 180901 41 Exons: Exons 2, 3, 6, 8-15, 17, 34, 38-40, 42-48, 51, 52, 67, 71, 73, 85, 86, 90, 94, 95, 97, 98-104 1800

MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5

601887

CACNA1S (CACNL1A3)

114208

3 Mutations: R528H, R1239H, R1239G or
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations

 3 Mutations: 160
Exons: 350

MALIGNANT MELANOMA, CMM3

609048

CDK4

123829

Whole Gene or Exon 2

 Whole Gene: 800
Exon 2: 250

MALIGNANT MELANOMA WITH NEURAL CELL TUMORS
» MELANOMA-ASTROCYTOMA SYNDROME

155755

CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; P16; CDKN2)

600160

.

 380
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA
» CRANIOMANDIBULAR DERMATODYSOSTOSIS 		 248370 LMNA (LAMIN A/C) 150330   700
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
» LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA

608612

 ZMPSTE24 (ZINC METALLOPROTEINASE STE24) 606480   Upon Request
MANDIBULOFACIAL DYSOSTOSIS . See TREACHER COLLINS-FRANCESCHETTI SYNDROME (TCOF) . . .
MANNOSE-BINDING PROTEIN DEFICIENCY . MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN,
COLLECTIN 1)
 154545 

Whole Gene or
5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C

 Whole Gene: 700
5 Mutations: 250
MANNOSIDOSIS, BETA A, LYSOSOMAL
» BETA-MANNOSIDASE DEFICIENCY		 248510 MANBA (MANNOSIDASE, BETA A, LYSOSOMAL) 609489   1700

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY

 248600

BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE)

 608348    800

BCKDHB (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE)

 248611    1250
DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT) 248610 Whole Gene or Deletion-Duplication Whole Gene: 1600
Deletion-Duplication: 600
MARBLE BONES (AUTOSOMAL DOMINANT)   See OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2      
MARBLE BONES (AUTOSOMAL RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .    
MARBLE BRAIN DISEASE   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS      
MARFAN-LIKE CONNECTIVE TISSUE DISORDER   See MARFAN SYNDROME, TYPE 2      
MARFAN SYNDROME, TYPE 1, MFS 154700 FBN1 (FIBRILLIN1) 134797 At least 20mg DNA is needed  1300

MARFAN SYNDROME, TYPE 2
» MARFAN-LIKE CONNECTIVE TISSUE DISORDER

 154705 TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 See also TGFBR1 and
TGFBR2		 700
TGFBR1 and
TGFBR2		   1200
MAROTEAUX-LAMY SYNDROME   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6      
MARSHALL SYNDROME 154780 COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) 120280 Turn-around-time: 30 Weeks 3000

MASA SYNDROME

.

See CRASH SYNDROME

.

.

  
MASS PHENOTYPE 604308 FBN1 (FIBRILLIN1) 134797 At least 20mg DNA is needed  1300
MASS SYNDROME   See MASS PHENOTYPE      
MATURITY-ONSET DIABETES   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1, MODY1

125850

HNF4A

600281

.

 800

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2, MODY2

125851

GCK (GLUCOKINASE)

138079

.

 600

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MODY3

600496

HNF1A (TCF1)

142410

.

 700

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4, MODY4

606392

IPF1

600733

.

 450

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5, MODY5

604284

HNF1B (HNF2, TCF2)

189907

.

 600
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6, MODY6 606394  NEUROD1 (BETA2) 601724 . 400
MAY-HEGGLIN ANOMALY
» DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS
» MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS		 155100 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1800
MCARDLE DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 5      
MCCUNE-ALBRIGHT SYNDROME
» ALBRIGHT SYNDROME
» POLYOSTOTIC FIBROUS DYSPLASIA		 174800 GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320 Whole Gene or 2 Common Mutations: R201H and R201C Whole Gene: 790
2 Common Mutations: 160
MCM DEFICIENCY   See METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY      
MDR3 DEFICIENCY   See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3      
MECKEL-GRUBER SYNDROME   See MECKEL SYNDROME, TYPE 1      
See MECKEL SYNDROME, TYPE 3      

MECKEL SYNDROME, TYPE 1
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME

 249000 MSK1 609883   1200
MECKEL SYNDROME, TYPE 3
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME		 607361 MSK3 (MECKELIN, TMEM67, TRANSMEMBRANE PROTEIN 67) 609884   1500
MECKEL SYNDROME, TYPE 4 611134 CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6) 610142   1400
MECKEL SYNDROME, TYPE 5 611561 RPGRIP1L (RPGRIP1-LIKE) 610937   1500
MED-IDDM SYNDROME   See EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS      

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD

201450

ACADM

607008

Whole Gene or 1 Mutation: K329E

 Whole Gene: 990
1 Mutation: 150
MEDULLARY CYSTIC KIDNEY DISEASE 2, MCKD2 603860
 UMOD (UROMODULIN) 191845   700

MEDULLARY THYROID CARCINOMA, MTC

155240

RET (RET KINASE)

164761

Exons 10,11, 13-16

 400

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

605908

MLC1

605908

.

 Upon Request
MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS   See THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TRMA      
MEIGE LYMPHEDEMA   See LYMPHEDEMA, HEREDITARY, TYPE 2      

MELANOMA-ASTROCYTOMA SYNDROME

.

See MALIGNANT MELANOMA WITH NEURAL CELL TUMORS

.

.

  
MELANOMA, MALIGNANT, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   1000
MELNICK-NEEDLES SYNDROME
» OSTEODYSPLASTY OF MELNICK AND NEEDLES		 309350 FLNA (FILAMIN A) 300017 Exon 22 430
MELORHEOSTOSIS
» MELORHEOSTOSIS WITH OSTEOPOIKILOSIS		 155950 LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) 607844   800
MELORHEOSTOSIS WITH OSTEOPOIKILOSIS   See MELORHEOSTOSIS      

MEN

.

See MULTIPLE ENDOCRINE NEOPLASIA

.

.

  

MENKES DISEASE
» KINKY HAIR DISEASE

309400

ATP7A

300011

Whole Gene or Deletion-Duplication

 1700
METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY		 250100 ARSA (ARYLSULFATASE A,  CEREBROSIDE-SULFATASE)  607574 Whole Gene or Deletion-Duplication Whole Gene: 850
Deletion-Duplication: 600
METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE   See CARTILAGE - HAIR HYPOPLASIA      

METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
» CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY
» CARTILAGE-HAIR HYPOPLASIA VARIANT

 250460 RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) 157660   350
MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM   See OPITZ-KAVEGGIA SYNDROME      
MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME   See MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE      
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) .  MRX-Panel:
ARX,
PQBP1,
JARID1C,
TM4SF2,
FACL4,
DLG3,
FTSJ1,
ZNF41		 .
300382
300463
314690
300096
300157
300189
300499
314995		   2900
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 300189 DLG3 300189 See also Mental Retardation Panel 950
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 314995 ZNF41 (ZINC FINGER PROTEIN 41) 314995 See also Mental Retardation Panel

680
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 9, MRX9 309549 FTSJ1 (FTSJ HOMOLOG 1) 300499 See also Mental Retardation Panel 600
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE16, MRX16  . See NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16 . . .

MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE19, MRX19

300075

RSK2 (RPS6KA3)

300075

.

 630
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 44, MRX44 300501 FTSJ1 (FTSJ HOMOLOG 1) 300499 See also Mental Retardation Panel 600
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 300412 ARX 300382 See also Mental Retardation Panel 790
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE55, MRX55 . See MENTAL RETARDATION, SYNDROMIC (X -LINKED), TYPE3, MRXS3 . . .
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 58, MRX58 300210 TM4SF2 (TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2)
300096 See also Mental Retardation Panel 580
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 63, MRX63 300387 FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) 300157 See also Mental Retardation Panel 680
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 68, MRX68 300387 FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) 300157 See also Mental Retardation Panel 680
MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1 . See PARTINGTON SYNDROME, MRXS1 . . .

MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME

..

See SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME

.

.

  
MENTAL RETARDATION, SYNDROMIC (X –LINKED) 300534 SMCX (JARID1C) 314690 See also Mental Retardation Panel 980
MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE
» MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME
» ANGELMAN-LIKE SYNDROME (X-LINKED)
 300243 SLC9A6 (SOLUTE CARRIER FAMILY 9, ISOFORM A6) 300231   1200

MENTAL RETARDATION, SYNDROMIC (X -LINKED), TYPE3, MRXS3
» SUTHERLAND-HAAN MENTAL RETARDATION SYNDROME (X-LINKED)
» MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE55, MRX55

309470

PQBP1 (POLYGLUTAMINE-BINDING PROTEIN 1)

300463

See also Mental Retardation Panel

 500
MENTAL RETARDATION SYNDROMIC (X-LINKED), TYPE 14, MRXS14 300676 UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) 300298   1500
MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (X-LINKED)
» MENTAL RETARDATION (X-LINKED), TYPE 60, MRX60		 300486 OPHN1 (OLIGOPHRENIN 1, OPN1) 300127   1500
MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)   See JUBERG-MARSIDI SYNDROME      
MENTAL RETARDATION WITH HYPOTONIA (X-LINKED)   See ALLAN-HERNDON-DUDLEY SYNDROME      

MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM

300055

MECP2

300005

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 500
Deletion Analysis: 420
MENTAL RETARDATION, WITH SEIZURES, SHORT STATURE AND MIDFACE HYPOPLASIA (X-LINKED) 300397 SLC6A8 (CREATINE TRANSPORTER, CT1) 300036 Blood in RNA PAX tubes 1500
MENTAL RETARDATION (X-LINKED), TYPE 60, MRX60   See MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (X-LINKED)      

MENTAL RETARDATION (X-LINKED), WITH ISOLATED GROWTH HORMONE DEFICIENCY, MRGH

300123

SOX3 (SRY-BOX 3)

313430

.

 Upon Request
MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
 . See ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED) . . .

MESANGIAL SCLEROSIS, FAMILIAL

.

See NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS

.

.

  
MESIODENS-CATARACT SYNDROME   See NANCE-HORAN SYNDROME      
MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE   See LANGER MESOMELIC DYSPLASIA      

METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY

 250100 ARSA (ARYLSULFATASE A,  CEREBROSIDE-SULFATASE) 607574 Deletion-Duplication 600
METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY
» GAUCHER DISEASE DUE TO SAP2 DEFICIENCY
» PROSAPOSIN DEFICIENCY		 249900 PSAP (PROSAPOSIN) 176801   860

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

156500

COL10A1 (COLLAGEN, TYPE X, ALPHA1)

120110

Whole Gene

 700

METATROPIC DWARFISM

.

See KNIEST DYSPLASIA

.

.

  
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 250800 DIA1 (CYTOCHROME b5 REDUCTASE, CYB5R) 250800 . 890
METHYLCROTONYLGLYCINURIA TYPE 1   See 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY      
METHYLCROTONYLGLYCINURIA TYPE 2   See 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY      
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
» VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE		 277400 MMACHC 609831   300

METHYLMALONIC ACIDURIA, cblA TYPE
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE

 251100

MMAA

 607481   400

METHYLMALONIC ACIDURIA, cblB TYPE
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE

 251110

MMAB (COBALAMIN ADENOSYLTRANSFERASE)

 607568   500

METHYLMALONIC ACIDURIA DUE TO MCM DEFICIENCY
» MMA DUE TO MCM DEFICIENCY
» MCM DEFICIENCY

251000

MUT (METHYLMALONYL CoA MUTASE,MCM)

251000.

   700
METHYLMALONIC ACIDURIA, TYPE 3   See METHYLMALONYL-CoA EPIMERASE DEFICIENCY      
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE   See METHYLMALONIC ACIDURIA, cblA TYPE      
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE   See METHYLMALONIC ACIDURIA, cblB TYPE      
METHYLMALONYL-CoA EPIMERASE DEFICIENCY
» METHYLMALONIC ACIDURIA, TYPE 3		 251120 MCEE (METHYLMALONYL-CoA EPIMERASE; METHYLMALONYL-CoA RACEMASE) 608419   300
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE   See MOWAT-WILSON SYNDROME      
MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME   See FEINGOLD SYNDROME      
MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME   See FEINGOLD SYNDROME      
MICROCORIA-CONGENITAL NEPHROTIC SYNDROME   See PIERSON SYNDROME      
MICROPENIS . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   		 152790   1000
MICROPHTHALMIA, ISOLATED, WITH CATARACT 2

212550

SIX6

 606326   550
MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY   See ABETALIPOPROTEINEMIA      
MIGRAINE, FAMILIAL HEMIPLEGIC, 1
» MIGRAINE, SPORADIC HEMIPLEGIC 		141500 CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) 601011   1200
MIGRAINE, SPORADIC HEMIPLEGIC   See MIGRAINE, FAMILIAL HEMIPLEGIC, 1      
MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS 247200 PAFAH1B1  (LIS1) 601545

Whole Gene or Deletions

 Whole Gene: 1100
Deletions: 350
MILROY DISEASE   See LYMPHEDEMA, HEREDITARY, TYPE 1      
MINICORE MYOPATHY . See CENTRAL CORE DISEASE OF MUSCLE . . .
MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY   See ALPHA-METHYLACETOACETIC ACIDURIA      
MITOCHONDRIAL DISEASE . WHOLE MITOCHONDRIAL GENOME   Complete Mitochondrial DNA Sequencing 2500
MITOCHONDRIAL DNA DEPLETION MYOPATHY   See MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM      
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA 612073 SUCLA2 (SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT) 603921   650
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY 612075 RRM2B (RIBONUCLEOTIDE REDUCTASE, M2 B; RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2) 604712   700
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 251880 DGUOK (DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK) 601465   600
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 251880 MPV17 (MPV17, MOUSE, HOMOLOG OF) 137960   450
MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
» MITOCHONDRIAL DNA DEPLETION MYOPATHY		 609560 TK2 (THYMIDINE KINASE, MITOCHONDRIAL) 188250   770

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE
» MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
» POLIP SYNDROME
» MNGIE WITHOUT LEUKOENCEPHALOPATHY

 603041

ECGF1 (ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED, THYMIDINE PHOSPHORYLASE,
GLIOSTATIN)

 131222 . 850
MIYOSHI MYOPATHY
» MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET (AUTOSOMAL RECESSIVE)
 254130 DYSF (DYSFERLIN) 603009   Up to 2400, depending on amount of work
MMA DUE TO MCM DEFICIENCY   See METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY      
MMT SYNDROME   See FEINGOLD SYNDROME      
MNGIE WITHOUT LEUKOENCEPHALOPATHY   See MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE      

MODY

.

See MATURITY-ONSET DIABETES OF THE YOUNG

.

.

  
MOHR-TRANEBJAERG SYNDROME
» DYSTONIA-DEAFNESS SYNDROME
» DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME
» DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY		 304700 TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) 300356   400
MOHR - WRIEDT TYPE BRACHYDACTYLY

.

See BRACHYDACTYLY A2, BDA2

 . . .
MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY   See ALLAN-HERNDON-DUDLEY SYNDROME      
MORQUIO SYNDROME A   See MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A      
MORQUIO SYNDROME B   See MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B      
MOUNT-REBACK SYNDROME   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
MOWAT-WILSON SYNDROME
» MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
» HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME		 235730 ZFHX1B (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) 605802

Whole Gene or MLPA

Whole Gene: 1100
MLPA: 1100

MTP DEFICIENCY   See ABETALIPOPROTEINEMIA      

MUCKLE-WELLS SYNDROME

191900

CIAS1  (CRYOPYRIN)

606416

.

 650
MUCOLIPIDOSIS, TYPE 1, ML1   See NEURAMINIDASE DEFICIENCY      
MUCOLIPIDOSIS, TYPE 2, ML2
» I-CELL DISEASE		 252500 GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) 607840   2400
MUCOLIPIDOSIS, TYPE 3, ML3
» PSEUDO-HURLER POLYDYSTROPHY		 252600 GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) 607840   2400

MUCOLIPIDOSIS TYPE 4, ML4

252650

MCOLN1  (ML4, MUCOLYPIN)

605248

.

 450

MUCOPOLYSACCHARIDOSIS, TYPE 2
» HUNTER SYNDROME

309900

IDS (IDURONATE SULFATASE)

309900

.

 500

MUCOPOLYSACCHARIDOSIS TYPE 3A, MPS3A
» SANFILIPPO SYNDROME A

252900

SGSH (HEPARAN SULFATE SULFATASE,
SULFAMIDASE, N-SULFOGLUCOSAMINE SULFOHYDROLASE)

605270

.

 500

MUCOPOLYSACCHARIDOSIS TYPE 3B, MPS3B
» SANFILIPPO SYNDROME B
» N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
» NAGLU DEFICIENCY

 252920

NAGLU (N-ACETYLGLUCOSAMINIDASE, ALPHA)

 609701    1500
MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C
» SANFILIPPO SYNDROME C
» ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY		 252930 HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN 76; TMEM76) 610453 Whole Gene or Deletion-Duplication Whole Gene: 2200
Deletion-Duplication: 600
MUCOPOLYSACCHARIDOSIS, TYPE 3D, MPS3D
» SANFILIPPO SYNDROME D
» N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY		 252940 GNS (N-ACETYLGLUCOSAMINE-6-SULFATASE; GLUCOSAMINE-6-SULFATASE) 607664   2000
MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A
» MORQUIO SYNDROME A
» GALACTOSAMINE-6-SULFATASE DEFICIENCY		 253000 GALNS (GALACTOSAMINE-6-SULFATE SULFATASE; N-ACETYLGALACTOSAMINE-SULFATE SULFATASE) 612222  Whole Gene or Deletion-Duplication Whole Gene: 2000
Deletion-Duplication: 600
MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B
» MORQUIO SYNDROME B		 253010 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1600
MUCOPOLYSACCHARIDOSIS, TYPE 5, MPS5
» SCHEIE SYNDROME		 607016 IDUA (ALPHA-L-IDURONIDASE) 252800   2000
MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6
» MAROTEAUX-LAMY SYNDROME
» ARYLSULFATASE B DEFICIENCY
» N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
 253200 ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE) 253200 .  720
MUCOPOLYSACCHARIDOSIS, TYPE IH
» HURLER SYNDROME		 607014 IDUA (ALPHA-L-IDURONIDASE) 252800   2000
MUCOPOLYSACCHARIDOSIS, TYPE IH/S
» HURLER-SCHEIE SYNDROME		 607015 IDUA (ALPHA-L-IDURONIDASE) 252800   2000
MUCOSULFATIDOSIS   See MULTIPLE SULFATASE DEFICIENCY      
MULIBREY NANISM
» MUSCLE-LIVER-BRAIN-EYE NANISM
» PERHEENTUPA SYNDROME 		 253250 TRIM37 (TRIPARTITE MOTIF-CONTAINING PROTEIN 37)
 605073    150
MULTICORE MYOPATHY . See CENTRAL CORE DISEASE OF MUSCLE . . .
MULTIMINICORE DISEASE . See CENTRAL CORE DISEASE OF MUSCLE . . .
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680 ETFA (ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE) 608053   650
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680 ETFB (ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE) 130410   650
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680 ETFDH (ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE) 231675   650
MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET   See HOLOCARBOXYLASE SYNTHETASE DEFICIENCY      
MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET   See BIOTINIDASE DEFICIENCY      
MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET   See BIOTINIDASE DEFICIENCY      
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, MCUL1 150800 FH (FUMARATE HYDRATASE, FUMARASE)

136850

 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes 640

MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME

133700

EXT1 (EXOSTOSIN 1)

133700

.

 800

MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME

133701

EXT2 (EXOSTOSIN 2)

133701

.

 800

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1, MEN1

131100

MEN1 (MENIN)

131100

.

 400

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2A, MEN2A

171400

RET (RET KINASE)

164761

Exons 10,11, 13-16

 400

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2B, MEN2B

162300

RET (RET KINASE)

164761

Whole Gene or Exons 10,11, 13-16

 Whole Gene: 1950
Exons: 400

MULTIPLE EPIPHYSEAL DYSPLASIA 1, EDM1

132400

COMP

600310

Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations

 Whole Gene: 1500
Exons 13, 14 and 16: 610
MULTIPLE EPIPHYSEAL DYSPLASIA (AUTOSOMAL RECESSIVE)   See EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4      
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT   See ESCOBAR SYNDROME      

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE

 253290 CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690   650
CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) 100730   1400
MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE   See ESCOBAR SYNDROME      
MULTIPLE SULFATASE DEFICIENCY
» MUCOSULFATIDOSIS
» SULFATIDOSIS, JUVENILE, AUSTIN TYPE
 272200 SUMF1 (SULFATASE-MODIFYING FACTOR 1) 607939 .   810

MULTIPLE SYNOSTOSIS SYNDROME 1

186500

NOG (NOGGIN)

602991

.

 400
MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA   See FRONTOTEMPORAL DEMENTIA      
MUSCLE GLYCOGENOSIS (X-LINKED)   See GLYCOGEN STORAGE DISEASE, TYPE 9D      
MUSCLE-LIVER-BRAIN-EYE NANISM   See MULIBREY NANISM      
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 7      
See GLYCOGEN STORAGE DISEASE, TYPE 9D      
MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY .. See BECKER MUSCULAR DYSTROPHY, BMD      
MUSCULAR DYSTROPHY, BENIGN CONGENITAL   See BETHLEM MYOPATHY      
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, TYPE 1A, MDC1A 607855 LAMA2 (ALPHA-2 LAMININ, HEAVY CHAIN LAMININ 2, MEROSIN)
 156225   1200
MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1C, MDC1C 606612 FKRP (FUKUTIN-RELATED PROTEIN) 606596   . 600
MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET (AUTOSOMAL RECESSIVE)   See MIYOSHI MYOPATHY      
MUSCULAR DYSTROPHY, DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1 . See DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1 . . .
MUSCULAR DYSTROPHY, DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2 . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . . .
MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY . See DUCHENNE MUSCULAR DYSTROPHY, DMD . . .

MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

..

See EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

.

.

  

MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

.

See FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD

.

.

  

MUSCULAR DYSTROPHY, LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

..

See FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD

.

.

  
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, LGMD1A

159000

 TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN) 604103 Whole Gene or Exon 2 Whole Gene: 1500
Exon 2: 200

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, LGMD1B

159001

 LMNA (LAMIN A/C) 150330   700

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD1C 

607801

 CAV3 (CAVEOLIN 3) 601253   200

MUSCULAR DYSTROPHY, LIMB- GIRDLE, TYPE 2A, LGMD2A

253600

CAPN3 (CALPAIN 3)

114240

.

 900
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LGMD2B 253601 DYSF (DYSFERLIN) 603009   Up to 2400, depending on amount of work
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D
» DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2, AUTOSOMAL RECESSIVE, DMDA2
» ADHALINOPATHY, PRIMARY
» MUSCULAR DYSTROPHY, DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2 		608099 SGCA (SARCOGLYCAN, ALPHA, ADHALIN,
DYSTROGLYCAN 2)
 600119 . 670
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LGMD2E 604286 SGCB (SARCOGLYCAN, BETA)
 600900 . 500

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LGMD2F

601287

SGCD (SARCOGLYCAN DELTA)

601411

.

 600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, LGMD2I 607155 FKRP (FUKUTIN-RELATED PROTEIN) 606596   . 600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH EPIDERMOLYSIS BULLOSA SIMPLEX 226670 PLEC1 (PLECTIN 1) 601282  

2500
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT) . See OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT) . . .
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE) . See OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE) . . .
MUTILATING KERATODERMA WITH ICHTHYOSIS   See VOHWINKEL SYNDROME, VARIANT FORM       
MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA      
MYASTHENIA, LIMB-GIRDLE, FAMILIAL
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1B		 254300 DOK7 (DOWNSTREAM OF TYROSINE KINASE 7) 610285   750
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM		 608931 CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) 100710   650
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725   650
RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) 601562   750
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1A
» MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2		 254210 CHAT (CHOLINE ACETYLTRANSFERASE) 118490   1050
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY      
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 608930 CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690   650
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725   650
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) 100720   750
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a		 601462 CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690   650
CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) 100710   650
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725   650
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) 100720   750
MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY      
MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a   See MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL      
MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED 254450 JAK2 (JANUS KINASE 2) 147796 Exon 12, including V617F Mutation 250
MPL  (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR) 159530 Exon 10, including W515L Mutation 250

MYOADENYLATE DEAMINASE DEFICIENCY

102770

AMPD1 (AMP DEAMINASE)

102770

2 Mutations: Q12X, P48L

 220
MYOCLONIC DYSTONIA
» MYOCLONUS-DYSTONIA SYNDROME
» MYOCLONUS, HEREDITARY ESSENTIAL
» DYSTONIA, ALCOHOL-RESPONSIVE
» DYSTONIA 11, DYT11		 159900 DRD2 (DOPAMINE RECEPTOR D2) 126450   1100
GCH1 (GTP CYCLOHYDROLASE 1) 600225   550
SGCE (SARCOGLYCAN, EPSILON)
 604149     495

MYOCLONIC EPILEPSY OF LAFORA
» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2

 254780

EPM2A (LAFORIN)

 607566   650

NHLRC1 (NHL REPEAT-CONTAINING 1 GENE, EPM2B, MALIN)

 608072   650
MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) 300432 ARX 300382 See also Mental Retardation Panel 790
MYOCLONUS--CHERRY RED SPOT SYNDROME   See NEURAMINIDASE DEFICIENCY      
MYOCLONUS-DYSTONIA SYNDROME   See MYOCLONIC DYSTONIA      
MYOCLONUS, HEREDITARY ESSENTIAL   See MYOCLONIC DYSTONIA      
MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1      

MYOKYMIA WITH NEONATAL EPILEPSY
» EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA
» BFNC/MYOKYMIA SYNDROME

 606437

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

 602235   1600
MYOKYMIA WITH PERIODIC ATAXIA   See EPISODIC ATAXIA, TYPE 1, EA1      
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME   See MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE      
MYOPATHY, CATARACT, HYPOGONADISM SYNDROME   See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 1      
MYOPATHY, CENTRONUCLEAR (AUTOSOMAL DOMINANT) 160150 DNM2 (DYNAMIN 2, DYN2) 602378   1550
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255310 ACTA1  (ACTIN) 102610   750

MYOPATHY, DISTAL 1, MPD1
» LAING DISTAL MYOPATHY
» MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)

 160500 MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) 160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  
MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)   See MYOPATHY, DISTAL 1, MPD1      
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 606768 DYSF (DYSFERLIN) 603009   Up to 2400, depending on amount of work
MYOPATHY, DISTAL, WITH RIMMED VACUOLES . See NONAKA DISTAL MYOPATHY . . .
MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES   See BETHLEM MYOPATHY      
MYOPATHY, HYALINE BODY (AUTOSOMAL DOMINANT)   See MYOPATHY, MYOSIN STORAGE      
MYOPATHY, LATE DISTAL HEREDITARY   See MYOPATHY, DISTAL 1, MPD1      

MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
» DESMINOPATHY, PRIMARY

 601419 DES (DESMIN) 125660   750
MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED   See MYOTILINOPATHY      

MYOPATHY, MYOSIN STORAGE
» MYOPATHY, HYALINE BODY (AUTOSOMAL DOMINANT)

 608358 MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) 160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1  
MYOPATHY, VARIABLE   CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
MYOPHOSPHORYLASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 5      
MYOPIA-NIGHT BLINDNESS   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A      
MYOTILINOPATHY
» MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED

609200

 TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN) 604103 Whole Gene or Exon 2 Whole Gene: 1500
Exon 2: 200

MYOTONIA CONGENITA (AUTOSOMAL DOMINANT)
» THOMSEN DISEASE

160800

CLCN1

118425

.

 900

MYOTONIA CONGENITA (AUTOSOMAL RECESSIVE)
» BECKER MYOTONIA

255700

CLCN1

118425

.

 900

MYOTONIA CONGENITA, ATYPICAL

.

See HYPERKALEMIC PERIODIC PARALYSIS

.

.

  

MYOTONIA LEVIOR

.

CLCN1

118425

.

 900

MYOTONIC DYSTROPHY, TYPE 1
» STEINERT DISEASE

160900

DMPK (DM KINASE, MYOTONIN)

605377

Repeat

 350

MYOTONIC DYSTROPHY, TYPE 2
» PROXIMAL MYOTONIC MYOPATHY, PROMM
» MYOTONIC MYOPATHY, PROXIMAL
» RICKER SYNDROME

602668

ZNF9

116955

Repeat Expansion (CCTG)

At least 20 microgram DNA with a concentration higher than 300 nanogram per microliter is needed

 395
MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES   See SCHWARTZ-JAMPEL SYNDROME, TYPE 1      
MYOTONIC MYOPATHY, PROXIMAL . See MYOTONIC DYSTROPHY, TYPE 2 . . .

MYOTUBULAR MYOPATHY (X-LINKED)

310400

MTM1 (MYOTUBULARIN)

300415

.

 1000
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

N

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 3B      
N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6      
N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS, TYPE 3D, MPS3D      
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
» HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY

237310

 NAGS (N-ACETYLGLUTAMATE SYNTHASE) 608300   680
N-ACETYLNEURAMINIC ACID STORAGE DISEASE   See INFANTILE SIALIC ACID STORAGE DISORDER      
NAGLU DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 3B      

NAIL-PATELLA SYNDROME, NPS

161200

LMX1B

602575

Whole Gene or Deletions-Duplications

Whole Gene: 880
Deletions-Duplications: 600
NANA STORAGE DISEASE   See INFANTILE SIALIC ACID STORAGE DISORDER      

NANCE-HORAN SYNDROME
» CATARACT-DENTAL SYNDROME
» CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH
» MESIODENS-CATARACT SYNDROME

 302350 NHS 300457 . 1000
NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS   See JOHANSON-BLIZZARD SYNDROME      
NASU-HAKOLA SYNDROME   See PRESENILE DEMENTIA WITH BONE CYSTS      
NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH . See CYTOCHROME c OXIDASE DEFICIENCY . . .

NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1

161800

ACTA1 (ACTIN)

102610

.

 750

NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2

256030

ACTA1 (ACTIN)

102610

.

 750

NEB (NEBULIN)

 161650 Common Deletion of Exon 55 350
NEMALINE MYOPATHY CAUSED BY MUTATION IN THE TROPOMYOSIN 2 GENE   See NEMALINE MYOPATHY TYPE 4      

NEMALINE MYOPATHY TYPE 4
» NEMALINE MYOPATHY CAUSED BY MUTATION IN THE TROPOMYOSIN 2 GENE

 609285

TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN)

 190990   1300

NEONATAL CUTIS LAXA
» OCCIPITAL HORN SYNDROME

304150

ATP7A

300011

Whole Gene or Deletion-Duplication

 1700
NEONATAL OSSEOUS DYSPLASIA 1   See ATELOSTEOGENESIS TYPE 2      

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

239200

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

.

 550

NEPHROBLASTOMA

.

See WILMS TUMOR 1

.

.

  

NEPHROLITHIASIS (X-LINKED)

310468

CLCN5

300008

.

 800
NEPHRONOPHTHISIS, ADOLESCENT   See NEPHRONOPHTHISIS, TYPE 3      
NEPHRONOPHTHISIS, INFANTILE   See NEPHRONOPHTHISIS, TYPE 2      
NEPHRONOPHTHISIS, JUVENILE   See NEPHRONOPHTHISIS, TYPE 4      
NEPHRONOPHTHISIS, TYPE 1 256100 NPHP1 (NEPHROCYSTIN 1) 6607100   1200
NEPHRONOPHTHISIS, TYPE 2
» NEPHRONOPHTHISIS, INFANTILE

602088

 NPHP2 (NEPHROCYSTIN 2, INVS, INVERSIN) 243305   1150
NEPHRONOPHTHISIS, TYPE 3
» NEPHRONOPHTHISIS, ADOLESCENT		 604387 NPHP3 (NEPHROCYSTIN 3) 608002   1350
NEPHRONOPHTHISIS, TYPE 4
» NEPHRONOPHTHISIS, JUVENILE		 606966 NPHP4 (NEPHROCYSTIN 4, NEPHRORETININ) 607215   1350
NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1
» FINNISH CONGENITAL NEPHROSIS
 256300 NPHS1 (NEPHRIN) 602716   1800
NPHS2 (PODOCIN) 604766   550
NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES, INCLUDED   See PIERSON SYNDROME      

NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS
» MESANGIAL SCLEROSIS, FAMILIAL

256370

WT1 (WILMS TUMOR 1 GENE)

607102

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 700
MLPA: 450
NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1
» FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)
 600995 NPHS1 (NEPHRIN) 602716   1800
NPHS2 (PODOCIN) 604766   550
NEPHROTIC SYNDROME, TYPE 3

610725

 PLCE1 (PHOSPHOLIPASE C, EPSILON-1) 608414   1400
NESIDIOBLASTOSIS
» HYPERINSULINISM (AUTOSOMAL RECESSIVE)
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY DUE TO FOCAL ADENOMATOUS HYPERPLASIA		 256450  KCNJ11 600937 . 350
NESIDIOBLASTOSIS OF PANCREAS   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
NETHERTON SYNDROME 256500 SPINK5 (LEKTI) 605010   2100
NETTLESHIP-FALLS TYPE OCULAR ALBINISM   See ALBINISM, OCULAR, TYPE 1, OA1      
NEUG DEFICIENCY   See NEURAMINIDASE DEFICIENCY      

NEURAMINIDASE DEFICIENCY
» SIALIDOSIS, TYPE 2
» SIALIDOSIS, TYPE 1
» MUCOLIPIDOSIS 1, ML1
» LIPOMUCOPOLYSACCHARIDOSIS
» SIALIDASE DEFICIENCY
» NEUG DEFICIENCY
» CHERRY RED SPOT--MYOCLONUS SYNDROME
» MYOCLONUS--CHERRY RED SPOT SYNDROME

256550

NEU1 (NEURAMINIDASE 1, SIALIDASE)

 608272   650
NEUROAXONAL DYSTROPHY, INFANTILE (INAD) 256600 PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604   1250
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED 610217 PLA2G6(PHOSPHOLIPASE A2, GROUP 6) 603604   1250
NEUROFERRITINOPATHY   See BASAL GANGLIA DISEASE, ADULT-ONSET      
NEUROFIBROMATOSIS, CENTRAL TYPE . See NEUROFIBROMATOSIS TYPE 2, NF2 .    

NEUROFIBROMATOSIS, TYPE 1, NF1
» VON RECKLINGHAUSEN DISEASE

162200

NF1 (NEUROFIBROMIN)

162200

At least 15 (adults) or 5 ml (children) EDTA-blood has to arrive at room temperature within 48 hrs after withdrawal

 1300
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 611431 SPRED1 (SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1) 609291   500
NEUROFIBROMATOSIS TYPE 2, NF2
» NEUROFIBROMATOSIS, CENTRAL TYPE
» ACOUSTIC SCHWANNOMAS, BILATERAL
» BILATERAL ACOUSTIC NEUROFIBROMATOSIS
» ACOUSTIC NEURINOMA		 101000 NF2 (NEUROFIBROMIN 2, MERLIN, SCHWANNOMIN) 607379   850
NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 6   See SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, SMARD1      
NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES   See AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4      

NEUROPATHY, CONGENITAL HYPOMYELINATING

 605253 MPZ  (MYELIN PROTEN ZERO, P0) 159440   500
NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA      
NEUROPATHY, GIANT AXONAL (AUTOSOMAL RECESSIVE)   See GIANT AXONAL NEUROPATHY 1      
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE (HMSNL)   See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D      
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1
» HSAN1
» NEUROPATHY, HEREDITARY SENSORY RADICULAR (AUTOSOMAL DOMINANT)		 162400 SPTLC1 (SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1) 605712  Exons 5-6 380
NEUROPATHY, HEREDITARY SENSORY RADICULAR (AUTOSOMAL DOMINANT)   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1      
NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN DEFICIENCY   HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT,
LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD)		 600890 Whole Gene or 2 Common Mutations: (1528G>C and 1132C>T) Whole Gene: 1200
2 Common Mutations: 300
NEUTRAL LIPID STORAGE DISEASE   See CHANARIN-DORFMAN DISEASE      

NEUTROCYTOPENIA (X-LINKED)

300299

WAS (WASP)

300392

.

 495

NEUTROPENIA, SEVERE CONGENITAL, SCN
» CONGENITAL NEUTROPENIA
» INFANTILE AGRANULOCYTOSIS
» KOSTMANN DISEASE

202700

 ELA2 (ELASTASE 2) 130130   700
NICOTINE DEPENDENCE, SUSCEPTIBILITY TO   See TOBACCO ADDICTION, SUSCEPTIBILITY TO      
NIEMANN-PICK DISEASE, TYPE A
» SPHINGOMYELIN LIPIDOSIS
» SPHINGOMYELINASE DEFICIENCY
» (See also Molecular Screening Tests)
 257200 SMPD1 (SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID SPHINGOMYELINASE)  607608 Whole Gene, 1 Mutation: DelR608 or 3 Mutations: R496L, FSP330, L302P Whole Gene: 900
1Mutation: 150
3 Mutations: 150
NIEMANN-PICK DISEASE, TYPE B
» (See also Molecular Screening Tests)
 607616 SMPD1 (SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID SPHINGOMYELINASE)  607608 Whole Gene, 1 Mutation: DelR608 or 3 Mutations: R496L, FSP330, L302P Whole Gene: 900
1Mutation: 150
3 Mutations: 150
NIEMANN-PICK DISEASE, TYPE C1, NPC1
» NIEMANN-PICK DISEASE, TYPE D
» NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE

257220

 NPC1 607623    2500
NIEMANN-PICK DISEASE, TYPE C2 607625 NPC2 601015   700
NIEMANN-PICK DISEASE, TYPE D   See NIEMANN-PICK DISEASE, TYPE C1, NPC1      
NIGHT BLINDNESS, CONGENITAL STATIONARY    See RETINITIS PIGMENTOSA 4, RP4      

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
» HEMERALOPIA-MYOPIA
» MYOPIA-NIGHT BLINDNESS
» NYCTALOPIA

 310500

NYX (NYCTALOPIN)

 300278   950

NIJMEGEN BREAKAGE SYNDROME, NBS
» SEEMANOVA SYNDROME, TYPE 2
» ATAXIA-TELANGIECTASIA VARIANT
» MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULAR MALIGNANCIES
» BERLIN BREAKAGE SYNDROME

251260

NBS1 (NIBRIN)

602667

Whole Gene,
1 Mutation: 5bp Deletion (90% of all mutations) or Exon 6, including 657del5 Mutation

 Whole Gene: 2600
1 Mutation: 225
Exon 6: 250
NO DISEASE . CPT1B (CARNITINE PALMITOYLTRANSFERASE I, MUSCLE) 601987   1600
NODULAR HETEROTOPIA   See HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)      

NOMID

.

See CINCA SYNDROME

.

.

  
NONAKA DISTAL MYOPATHY
» MYOPATHY, DISTAL, WITH RIMMED VACUOLES		 605820 GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) 603824 Whole Gene or 1 Mutation Whole Gene: 750
1 Mutation: 400

NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA
» UNNA-THOST DISEASE
» HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA

600962

KRT1 (KERATIN 1)

139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT17 (KERATIN 17)

148069

.

 1000

KRT16 (KERATIN 16)

148067

.

 1000

KRT16 and KRT17 (KERATIN 16 and KERATIN 17)

.

Hotspots

 800
NONINSULIN-DEPENDENT DIABETES MELLITUS   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      

NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY

 605899 AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN) 238310   800
GCSH (GLYCINE CLEAVAGE SYSTEM H PROTEIN) 238330   400

GLDC (GLYCINE DECARBOXYLASE, GLYCINE CLEAVAGE SYSTEM P PROTEIN)

 238300   1600
NONNE-MILROY LYMPHEDEMA   See LYMPHEDEMA, HEREDITARY, TYPE 1      
NONSMALL CELL LUNG CANCER, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   1000

NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16
» MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE16, MRX16

.

MECP2

300005

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 500
Deletion Analysis: 420

NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)
» CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS

602849

FGFR3

134934

.

 300

NOONAN SYNDROME, TYPE 1

163950

PTPN11

176876

Whole Gene

 700
NOONAN SYNDROME, TYPE 3 609942 KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450
NOONAN SYNDROME, TYPE 4 610733 SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) 308700   1200
NOONAN SYNDROME, TYPE 5 611553 RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1) 164760   1800

NORRIE DISEASE
» ATROPHIA BULBORUM HEREDITARIA
» PSEUDOGLIOMA
» EPISKOPI BLINDNESS
» EXUDATIVE RETINOPATHY (X-LINKED)

 310600 NDP (NORRIN)  310600    450
NORUM DISEASE   See LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY      
NYCTALOPIA   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

O

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
OBESITY 601665

MC4R (MELANOCORTIN 4 RECEPTOR)

 155541   370
PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)		 601487 2 Mutations: P12A and P115Q 250
OBESITY, EARLY-ONSET, ADRENAL INSUFFICIENCY, AND RED HAIR   See PROOPIOMELANOCORTIN DEFICIENCY      

OCCIPITAL HORN SYNDROME

.

See NEONATAL CUTIS LAXA

.

.

  
OCULAR MYOPATHY WITH HYPOGONADISM   See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 1      
OCULOCUTANEOUS ALBINISM, TYPE 1, OCA1 (TYROSINASE-NEGATIVE )
 203100 OCA1 (TYR, TYROSINASE) 606933 Whole Gene 720

OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE)
» PINK-EYED DILUTION
» BROWN OCULOCUTANEOUS ALBINISM, BOCA

203200

OCA2 (P gene)

203200

Whole Gene or Common Deletion

 Whole Gene: 1050
Common Deletion: 350
OCULOCUTANEOUS ALBINISM, TYPE 3, OCA3 203290 TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) 115501   700
OCULOCUTANEOUS ALBINISM, TYPE 4, OCA4 606574

SLC45A2 (SOLUTE CARRIER FAMILY 45, MEMBER 2, MATP (MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN)

 606202    850
OCULODENTODIGITAL DYSPLASIA
» OCULODENTOOSSEOUS DYSPLASIA 		 164200  GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN 43, CX43) 121014    330
OCULODENTOOSSEOUS DYSPLASIA   See OCULODENTODIGITAL DYSPLASIA      
OCULODIGITOESOPHAGODUODENAL SYNDROME   See FEINGOLD SYNDROME      

OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT)
» MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT)

164300

PABPN1 (PAB2, POLYA BINDING PROTEIN)

602279

Repeat

 400

OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE)
» MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE)

257950

PABPN1 (PAB2, POLYA BINDING PROTEIN)

602279

Repeat

 400
ODED SYNDROME   See FEINGOLD SYNDROME      
OFD SYNDROME, TYPE 1   See OROFACIODIGITAL SYNDROME, TYPE 1      
OKIHIRO SYNDROME   See DUANE-RADIAL RAY SYNDROME      

OLIGODENDROGLIOMA

137800

PTEN

601728

Whole Gene or Deletions

 Whole Gene: 1400
Deletions: 500

OMENN SYNDROME
» RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
» SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA

 603554

DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, ARTEMIS)

 605988    1500
RAG1 (RECOMBINATION-ACTIVATING GENE 1)

RAG2 (RECOMBINATION-ACTIVATING GENE 2)		 179615
179616		 Testing of both RAG Genes 1900
ONDINE CURSE . See CONGENITAL CENTRAL HYPOVENTILATION SYNDROME . . .
ONDINE-HIRSCHSPRUNG DISEASE . See CONGENITAL CENTRAL HYPOVENTILATION SYNDROME . . .
OPHTHALMOPLEGIA, CONGENITAL . See FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3 . . .
OPITZ G/BBB SYNDROME (X-LINKED) . See OPITZ SYNDROME .    
OPITZ-G SYNDROME . See OPITZ SYNDROME .    
OPITZ-KAVEGGIA SYNDROME 305450 UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) 300298   1500
OPITZ-KAVEGGIA SYNDROME
» FG SYNDROME
» MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM		 305450 MED12 (MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF; TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT) 300188 Exon 21 including the R961W Mutation 900
OPITZ SYNDROME
» OPITZ G/BBB SYNDROME (X-LINKED)
» OPITZ SYNDROME (X-LINKED)
» OPITZ-G SYNDROME		 300000 MID1 (MIDLINE 1, MIDIN, MIDLINE 1 RING FINGER GENE) 300000   900
OPITZ SYNDROME (X-LINKED) . See OPITZ SYNDROME .    

OPTIC ATROPHY 1
» OPTIC ATROPHY, JUVENILE
» KJER TYPE OPTIC ATROPHY
» OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY

 165500 OPA1 605290 . 1200
OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY   See OPTIC ATROPHY 1      
OPTIC ATROPHY, JUVENILE   See OPTIC ATROPHY 1      
OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA   See JENSEN SYNDROME      

ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY

311250

OTC (ORNITHINE CARBAMOYL TRANSFERASE GENE)

311250

.

 900
OROFACIODIGITAL SYNDROME, TYPE 1
» OFD SYNDROME, TYPE 1
» PAPILLON-LEAGUE-PSAUME SYNDROME		 311200 OFD1 (CHROMOSOME X OPEN READING FRAME 5; CXORF5) 300170   1700
ORW DISEASE   See TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER      
ORW DISEASE, TYPE 1   See TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 1      
ORW DISEASE, TYPE 2   See TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2      
OSLER-RENDU-WEBER DISEASE   See TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER      
OSLER-RENDU-WEBER DISEASE, TYPE 1   See TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 1      
OSLER-RENDU-WEBER DISEASE, TYPE 2   See TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2      
OSSEOUS HETEROPLASIA, PROGRESSIVE
» ECTOPIC OSSIFICATION, FAMILIAL
» OSTEOMA CUTIS		 166350 GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320   790
OSTEODYSPLASTY OF MELNICK AND NEEDLES   See MELNICK-NEEDLES SYNDROME      
OSTEOGENESIS IMPERFECTA TYPE 1, OI1 166200 COL1A1 and COL1A2 120150 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Whole Gene: 1200
OSTEOGENESIS IMPERFECTA TYPE 2, OI2 166210 COL1A1 and COL1A2 120150 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Whole Gene: 1200
OSTEOGENESIS IMPERFECTA TYPE 3, OI3 259420 COL1A1 and COL1A2 120150 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Whole Gene: 1200
OSTEOGENESIS IMPERFECTA TYPE 4, OI4 166220 COL1A1 and COL1A2 120150 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Whole Gene: 1200
OSTEOGENESIS IMPERFECTA, TYPE 7, OI7 610682 CRTAP (CARTILAGE-ASSOCIATED PROTEIN) 605497   850

OSTEOGENESIS IMPERFECTA, TYPE 8, OI8

 610915

LEPRE1 (LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1, LEPRECAN, PROLYL 3-HYDROXYLASE 1)

 610339   850
OSTEOMA CUTIS . See OSSEOUS HETEROPLASIA, PROGRESSIVE .    
OSTEOPATHIA CONDENSANS DISSEMINATA   See BUSCHKE-OLLENDORFF SYNDROME      
OSTEOPETROSIS (AUTOSOMAL RECESSIVE)
» MARBLE BONES (AUTOSOMAL RECESSIVE)
» ALBERS-SCHONBERG DISEASE (AUTOSOMAL RECESSIVE)		 259700 TCIRG1 (T CELL IMMUNE REGULATOR 1, TIRC7, IOC116) 604592   1360
OSTEOPETROSIS, INFANTILE MALIGNANT, TYPE 2   See OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4      
OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2
» ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)
» MARBLE BONES (AUTOSOMAL DOMINANT)
» OSTEOSCLEROSIS FRAGILIS GENERALISATA		 166600 CLCN7 602727   1600
OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4
» OSTEOPETROSIS, INFANTILE MALIGNANT, TYPE 2		 611490 CLCN7 602727   1600
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
» GUIBAUD - VAINSEL SYNDROME
» CARBONIC ANHYDRASE 2 DEFICIENCY
» MARBLE BRAIN DISEASE		 259730 CA2 (CARBONIC ANHYDRASE 2)
 259730   500
OSTEOPOIKILOSIS, ISOLATED, INCLUDED   See BUSCHKE-OLLENDORFF SYNDROME      

OSTEOSARCOMA

259500

TP53 (TUMOR PROTEIN p53)

191170

Whole Gene or Exons 5-8

 Whole Gene: 350
Exons 5-8: 250
OSTEOSCLEROSIS FRAGILIS GENERALISATA   See OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2      
OSTERTAG TYPE AMYLOIDOSIS   See AMYLOIDOSIS, FAMILIAL VISCERAL      
OTOPALATODIGITAL SYNDROME, TYPE 1, OPD1 311300 FLNA (FILAMIN A) 300017 Exon 3 300

OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2
» CRANIOORODIGITAL SYNDROME
» FACIOPALATOOSSEOUS SYNDROME

 304120 FLNA (FILAMIN A) 300017 Exons 3, 5, 11, 22, 29, 45 1200
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OSMED 215150 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks 3300
OVALOCYTOSIS (SOUTHEAST ASIAN , MALAYSIAN-MELANESIAN-FILIPINO TYPE) 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   950
OVARIAN DYSGENESIS TYPE 1, ODG1
» GONADAL DYSGENESIS, XX TYPE
» OVARIAN DYSGENESIS, HYPERGONADOTROPIC (AUTOSOMAL RECESSIVE)		 233300 FSHR (FOLLICLE-STIMULATING HORMONE RECEPTOR; FSH RECEPTOR; OVARIAN HYPERSTIMULATION SYNDROME, MODERATOR OF SEVERITY OF) 136435   1600
OVARIAN DYSGENESIS, HYPERGONADOTROPIC (AUTOSOMAL RECESSIVE)   OVARIAN DYSGENESIS TYPE 1, ODG1      
OVARIOLEUKODYSTROPHY   LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER      
OXALOSIS 1   See HYPEROXALURIA, PRIMARY, TYPE 1      
OXALOSIS 2   See HYPEROXALURIA, PRIMARY, TYPE 2      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

P

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
 Pretul in €
P450C11B1 DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      

PACHYONYCHIA CONGENITA, TYPE 1

.

See JADASSOHN-LEWANDOWSKY SYNDROME

.

.

  

PACHYONYCHIA CONGENITA, TYPE 2

.

See JACKSON-LAWLER DISEASE

.

.

  
PALLIDOPONTONIGRAL DEGENERATION          

PALLISTER-HALL SYNDROME
» HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY

 146510 GLI3
(GLI-KRUPPEL FAMILY MEMBER 3) 		 165240  Whole Gene or Deletions Whole Gene: 1700
Deletions: 350

PALMOPLANTAR KERATODERMA WITH DEAFNESS
» HYPERKERATOSIS, PALMOPLANTAR KERATODERMA WITH DEAFNESS

148350

GJB2 (CONNEXIN 26, CX26)

121011

.

 200

PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC

.

See EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

.

.

  

PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC

.

See NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA

.

.

  
PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR   See CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA      
PANCREATIC CARCINOMA  . KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   450
PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION   See SHWACHMAN-DIAMOND SYNDROME, SDS      
PANCREATITIS, HEREDITARY, PCTT 167800  SPINK1 (PANCREATIC SECRETORY TRYPSIN INHIBITOR, PSTI, TUMOR-ASSOCIATED TRYPSIN INHIBITOR, TATI) 167790 Exon 3

Includes PRSS1 (Exons 1-3)		 300
PRSS1 (PROTEASE, SERINE 1) 276000 Exons 1-3

Includes SPINK1 (Exon 3)		 300
PANHYPOPITUITARISM   See PITUITARY DWARFISM 3      

PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN

.

See HALLERVORDEN-SPATZ DISEASE

.

.

  
PAPA SYNDROME   See PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE      
PAPILLON-LEAGUE-PSAUME SYNDROME   See OROFACIODIGITAL SYNDROME, TYPE 1      
PAPILLORENAL SYNDROME . See RENAL-COLOBOMA SYNDROME .    
PAPULAR ATRICHIA   See ATRICHIA WITH PAPULAR LESIONS      

PARAGANGLIOMAS, PGL1
» GLOMUS TUMORS, TYPE 1

168000

SDHD (SUCCINATE DEHYDROGENASE 4, SDH4)

602690

.

 470
PARAGANGLIOMAS, PGL3
» GLOMUS TUMORS, TYPE 3		 605373 SDHC (SUCCINATE DEHYDROGENASE 3, SDH3) 602413   740
PARAGANGLIOMAS, PGL4
» GLOMUS TUMORS, TYPE 4		 115310 SDHB (SUCCINATE DEHYDROGENASE 1, SDH1) 185470 .  750

PARAMYOTONIA CONGENITA (VON EULENBURG)

168300

SCN4A

603967

Exons 9, 12-14, 19, 21-24

 900

PARAMYOTONIA WITHOUT COLD PARALYSIS

168350

SCN4A

603967

Exons 9, 12-14, 19, 21-24

 900

PARIETAL FORAMINA, TYPE 1
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

 168500 MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) 123101   800

PARIETAL FORAMINA, TYPE 2
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

 609597 ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF) 605420   800
PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA 168550 MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) 123101   800
PARKINSON DISEASE, TYPE 1, PARK1 (AUTOSOMAL DOMINANT)
» LEWY BODY PARKINSONISM		 168601 SNCA (ALPHA SYNUCLEIN) 163890 Whole Gene or Deletions Whole Gene: 450
Deletions: 450
PARKINSON DISEASE, TYPE 2, PARK2 (AUTOSOMAL RECESSIVE) 600116 PARKIN (PARK2)
 602544  Whole Gene or Deletions Whole Gene: 840
Deletions: 840
PARKINSON DISEASE, TYPE 4, PARK4 (AUTOSOMAL DOMINANT) 665543 SNCA (ALPHA SYNUCLEIN) 163890 Whole Gene or Deletions Whole Gene: 450
Deletions: 450
PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE) 605909 PINK1 608309  Whole Gene or Deletions Whole Gene: 720
Deletions: 720
PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) 606324 DJ1 602533  Whole Gene or Deletions Whole Gene: 630
Deletions: 630
PARKINSON DISEASE, TYPE 8, PARK8 607060   LRRK2 (LEUCINE-RICH REPEAT KINASE)
 609007   Whole Gene or Exon 41 Whole Gene: 3000
Exon 41: 350
PARKINSONISM, INFANTILE (AUTOSOMAL RECESSIVE)   See SEGAWA SYNDROME (AUTOSOMAL RECESSIVE)      
PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY   See EPISODIC ATAXIA, TYPE 1, EA1      
PAROXYSMAL DYSTONIC CHOREOATHETOSIS   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
PAROXYSMAL NONKINESIGENIC DYSKINESIA
» PAROXYSMAL DYSTONIC CHOREOATHETOSIS
» MOUNT-REBACK SYNDROME
» CHOREOATHETOSIS, NONKINESIGENIC
» DYSTONIA 8; DYT8		 118800 MR1 (MYOFIBRILLOGENESIS REGULATOR 1) 609023   Upon Request

PARTINGTON SYNDROME, MRXS1
» MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1

309510

ARX

300382

See also Mental Retardation Panel

 790

PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
» MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY
» BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM

 169150 PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400
PBGD DEFICIENCY   See PORPHYRIA, ACUTE INTERMITTENT      
PDH DEFICIENCY   See PYRUVATE DECARBOXYLASE DEFICIENCY      

PEDIATRIC ADRENOCORTICAL CARCINOMA

202300

TP53 (TUMOR PROTEIN p53)

191170

Whole Gene or Exons 5-8

 Whole Gene: 350
Exons 5-8: 250

PELIZAEUS-MERZBACHER DISEASE, PMD

312080

PLP1 (PROTEOLIPID PROTEIN 1, PLP)

300401

Whole Gene or Duplication

Preferably EDTA-blood

 Whole Gene: 650
Duplication: 300
PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE 1 (AUTOSOMAL RECESSIVE) 608804 GJC2 (GAP JUNCTION PROTEIN, GAMMA-2; GJA12; CONNEXIN 47; CONNEXIN 46.6) 608803   500
PEMPHIGUS, BENIGN FAMILIAL . See HAILEY-HAILEY DISEASE .    
PENA-SHOKEIR SYNDROME, TYPE 1   See FETAL AKINESIA DEFORMATION SEQUENCE      
PENDRED SYNDROME, PDS 274600 SLC26A4 (PENDRIN) 605646   800
PERHEENTUPA SYNDROME    See MULIBREY NANISM      

PERIODIC FEVER, DUTCH TYPE

.

See HYPER-IgD SYNDROME

.

.

  

PERIODIC FEVER, FAMILIAL (AUTOSOMAL DOMINANT)

.

See HIBERNIAN FEVER, FAMILIAL

.

.

  
PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE   See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS      
PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE   See WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT      
PERIVENTRICULAR NODULAR HETEROTOPIA 1   See HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)      
PERIVENTRICULAR NODULAR HETEROTOPIA 4   See HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT      
PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA   See HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)      
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
See NESIDIOBLASTOSIS      
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY DUE TO FOCAL ADENOMATOUS HYPERPLASIA   See NESIDIOBLASTOSIS      
PETERS ANOMALY  604229 CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1) 601771 See also CYP1B1,
OPTN and
MYOC		 220
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) 601090 Whole Gene Sequencing or Deletion-Duplication Whole Gene: 550
Deletion-Duplication: 500

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 1500
MLPA: 600
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) 601542 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 500
Deletion-Duplication: 500
PETERS ANOMALY WITH SHORT-LIMB DWARFISM   See PETERS-PLUS SYNDROME      
PETERS-PLUS SYNDROME
» KRAUSE-KIVLIN SYNDROME
» PETERS ANOMALY WITH SHORT-LIMB DWARFISM		 261540 B3GALTL (UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE, BETA-1,3-GLUCOSYLTRANSFERASE) 610308   2200

PEUTZ-JEGHERS SYNDROME, PJS
» HAMARTOUS INTESTINAL POLYPOSIS

175200

STK11 (SERINE THREONINE KINASE)

602216

Whole Gene Sequencing or Deletions - Duplications

Whole Gene Sequencing: 760
or Deletions - Duplications: 50

PFEIFFER SYNDROME
» CRANIOSYNOSTOSIS, PFEIFFER SYNDROME

101600

FGFR1

136350

Selected exons. Also includes testing of selected exons of FGFR2

 500

FGFR2

176943

Selected exons. Also includes testing of selected exons of FGFR2

 500
PHENYLKETONURIA, ATYPICAL SEVERE, DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY      

PHENYLKETONURIA, PKU
» HYPERPHENYLALANINEMIA
» FOLLING DISEASE

261600

PAH (PHENYLALANINE HYDROXYLASE)

261600

Whole Gene or Exons 3, 4, 5, 7 and 12

 Whole Gene: 750
Exons: 320

PHEOCHROMOCYTOMA

171300

VHL

193300

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 500
MLPA: 500
PHOSPHORYLASE KINASE DEFICIENCY OF HEART   See GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL      
PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE (AUTOSOMAL RECESSIVE)   See GLYCOGEN STORAGE DISEASE, TYPE 9B      
PICK DISEASE OF BRAIN 172700

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Whole Gene  1500
PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA   See WEISSENBACHER-ZWEYMULLER SYNDROME      
PIERSON SYNDROME
» MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
» NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES, INCLUDED		 609049 LAMB2 (LAMININ, BETA-2) 150325   1400
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY 172870 CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) 604210   1275
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES   See RABSON-MENDENHALL SYNDROME      
PINK-EYED DILUTION   See OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE)      

PITUITARY DWARFISM 1
» PRIMORDIAL DWARFISM
» SEXUAL ATELEIOTIC DWARFISM
» GROWTH HORMONE DEFICIENCY, ISOLATED
» AUTOSOMAL RECESSIVE
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A / 1B
» ILLIG-TYPE GROWTH HORMONE DEFICIENCY

 262400 GH1 139250   400

PITUITARY DWARFISM 2
» GROWTH HORMONE INSENSITIVITY SYNDROME
» LARON SYNDROME
» GROWTH HORMONE RECEPTOR DEFICIENCY

 262500 GHR (GROWTH HORMONE RECEPTOR, GROWTH HORMONE-BINDING PROTEIN,  GHBP) 600946   1000
PITUITARY DWARFISM 3
» PANHYPOPITUITARISM
» ATELIOTIC DWARFISM WITH HYPOGONADISM
» HANHART DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED
» HANHART DWARFISM
» PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE
» PITUITARY HORMONE DEFICIENCY, COMBINED		 262600 HESX1 (HOMEOBOX GENE EXPRESSED IN ES CELLS) 601802   400

LHX3 (LIM HOMEOBOX GENE 3, LIM3)

 600577   600
PROP1 (PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR)
 601538    370

PITUITARY DWARFISM 4
» PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN
» BIODEFECTIVE GROWTH HORMONE
» KOWARSKI SYNDROME

 262650 GH1 139250   400

PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)
» GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)
» ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2

 173100 GH1 139250   400
PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN   See PITUITARY DWARFISM 4      
PITUITARY HORMONE DEFICIENCY   See SEPTOOPTIC DYSPLASIA      
PITUITARY HORMONE DEFICIENCY, COMBINED 173110 POU1F1 (POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1, GROWTH HORMONE FACTOR 1, PIT1)
 173110    800
See PITUITARY DWARFISM 3      
PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE   See PITUITARY DWARFISM 3      
PITUITARY TUMOR, SOMATOTROPHINOMA . GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320   790
PLATELET DISORDER, ASPIRIN-LIKE   See PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY      
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
» PLATELET DISORDER, ASPIRIN-LIKE
» THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA		 601399 RUNX1 (RUNT-RELATED TRANSCRIPTION FACTOR 1, ACUTE MYELOID LEUKEMIA 1 GENE, AML1
CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, CBFA2) 		151385   Upon Request
PLATELET GLYCOPROTEIN Ib DEFICIENCY   See BERNARD-SOULIER SYNDROME      
PNEUMOTHORAX, PRIMARY SPONTANEOUS 173600 FLCN (FOLLICULIN, FLCL)
 607273   1450
PNPO DEFICIENCY   See PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY      
POIKILODERMA ATROPHICANS AND CATARACT   See ROTHMUND-THOMSON SYNDROME      
POIKILODERMA, HEREDITARY ACROKERATOTIC   See KINDLER SYNDROME      
POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE   See KINDLER SYNDROME      
POLIP SYNDROME   See MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE      
POLYCYSTIC KIDNEY AND HEPATIC DISEASE   See POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, ARPKD      
POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL RECESSIVE), ARPKD
» POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE 1
» POLYCYSTIC KIDNEY AND HEPATIC DISEASE
» CAROLI DISEASE
» RENAL-HEPATIC-PANCREATIC DYSPLASIA		 263200 PKHD1 (FIBROCYSTIN, POLYDUCTIN) 606702 Various Exons (80% of Mutations) 2200
POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE 1   See POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL RECESSIVE), ARPKD      
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY   See PRESENILE DEMENTIA WITH BONE CYSTS      
POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY   See 17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY