Teste Moleculare (Ordonate in functie de afectiune)  

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

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.

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

#

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu
22q11.2 DELETION SYNDROME . See DIGEORGE SYNDROME, DGS .  

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

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

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

250950

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

600529

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

 

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

A

Boala
Boala OMIM
Gena
Gena OMIM
Comentariu

AARSKOG SYNDROME
» FACIODIGITOGENITAL SYNDROME
FGD1
 
ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
 200100 MTP 157147 . 
ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE   See HYPOBETALIPOPROTEINEMIA, FAMILIAL    
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  
See ABETALIPOPROTEINEMIA    
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY		 115500 CAT (CATALASE) 115500  
ACATALASIA   See ACATALASEMIA    
ACHONDROGENESIS, BRAZILIAN TYPE
.
 
 
ACHONDROGENESIS, FRACCARO TYPE    See ACHONDROGENESIS TYPE 1B    
ACHONDROGENESIS TYPE 1B
» ACHONDROGENESIS, FRACCARO TYPE 		 600972 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  
ACHONDROGENESIS, TYPE 2
COL2A1
 
ACHONDROPLASIA
FGFR3
2 Mutations:
G380R, G375C
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   

ACROCAPITOFEMORAL DYSPLASIA, ACFD

607778

IHH (INDIAN HEDGEHOG)

600726

.

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
» ADULT SYNDROME
P63 (TP63)
 Exons 5-8, 13 and 14
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE		 101900 ATP2A2 (ATP2B, SERCA2) 108740  
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)
 
ACTH RESISTANCE   See GLUCOCORTICOID DEFICIENCY 1    
ACTIN MYOPATHY
ACTA1 (ACTIN)
 
ADCA
.
 
 

ADDISON DISEASE (X-LINKED)
» ADRENAL HYPOPLASIA, CONGENITAL
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM
DAX1  (NROB1)
 
ADENOCARCINOMA OF LUNG, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757  
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
ADHALINOPATHY, PRIMARY . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . .
ADRENAL HYPOPLASIA, CONGENITAL
.
 
 

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

201910

 CYP21A2 201910

Whole Gene or 7 most common mutations: Pro30Leu, A/C 655->G, 8 bp deletion exon 3, Asn172Ile, Val281Leu, Gln318X, Trp356Arg
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY
» ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES
» MALE PSEUDOHERMAPHRODITISM DUE TO MULTIPLE MICROSOMAL MIXED FUNCTION OXIDASE DEFICIENCY		 201750 POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY    
ADRENAL UNRESPONSIVENESS TO ACTH   See GLUCOCORTICOID DEFICIENCY 1    
ADRENOLEUKODYSTROPHY, ALD 300100 ABCD1 300371 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
ADRENOMYELONEUROPATHY, AMN   See ADRENOLEUKODYSTROPHY, ALD    
ADULT LACTASE DEFICIENCY   See LACTOSE INTOLERANCE    
ADULT POLYCYSTIC KIDNEYS, PKD, APKD
» POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE
 173900 PKD1 (POLYCYSTIN 1)
AND
PKD2 (POLYCYSTIN 2)		 601313
AND
173910 		2 Genes
ADULT SYNDROME
.
 
 

AFIBRINOGENEMIA
» DYSFIBRINOGENEMIA
FGA (FIBRINOGEN ALPHA)
 
FGB (FIBRINOGEN BETA)
 
FGG (FIBRINOGEN GAMMA)
 
All 3 Genes: FGA, FGB and FGG
    

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA (X-LINKED)
BTK (BRUTON TYROSINE KINASE, ATK, BPK)
 
ALAGILLE SYNDROME
JAG1 (JAGGED1)
 
ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1    
ALBERS-SCHONBERG DISEASE (AUTOSOMAL RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .  
ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA DYSTROPHICA, 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  
ALBRIGHT SYNDROME . See MCCUNE-ALBRIGHT SYNDROME .  
ALDOLASE B DEFICIENCY   See FRUCTOSE INTOLERANCE    
ALEXANDER DISEASE 203450

GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN)

137780  
ALPHA HAEMOGLOBINOPATHIA
» ALPHA THALASSEMIA
 141800 HBA 1 and HBA 2 (ALPHA GLOBIN)
 141800 Whole Gene (both HBA1 and HBA2) or Deletion Analysis (MLPA)
ALPHA-L-FUCOSIDASE DEFICIENCY   See FUCOSIDOSIS    
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
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 COL4A3  120070  .  
COL4A4  120131 .  
ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS   See ALPORT SYNDROME (X-LINKED)    
ALPORT SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS

301050

 COL4A5 303630 .  
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
ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1
APP
 

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3

607822

PSEN1 (PRESENILIN 1, PS1)

104311

  

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4

606889

PSEN2 (PRESENILIN 2, PS2)

600759

  
AMAUROSIS CONGENITA OF LEBER 3   See LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3    
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, CAMT
MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR)
 

AMYLOID POLYNEUROPATHY
» AMYLOIDOSIS 1
TTR  (TRANSTHYRETIN)
Exons 2-4
AMYLOIDOSIS 1
.
 
 
AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY .. See CEREBRAL AMYLOID ANGIOPATHY    
AMYLOIDOSIS, CEREBROARTERIAL
.
 
 
AMYLOIDOSIS, FAMILIAL VISCERAL
» AMYLOIDOSIS 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL		 105200 FGA  (FIBRINOGEN ALPHA) 134820  
AMYLOIDOSIS, FAMILIAL RENAL   See AMYLOIDOSIS, FAMILIAL VISCERAL    
AMYLOIDOSIS 8   See AMYLOIDOSIS, FAMILIAL VISCERAL    

AMYOTROPHIC LATERAL SCLEROSIS, ALS
» LOU GEHRIG'S DISEASE
SOD1
 

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  
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)
.
ANGELMAN SYNDROME, AS
UBE3A
Whole Gene or
IC Deletion or
Methylation
ANGELMAN SYNDROME, ATYPICAL 105830 CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)    

ANGIOEDEMA
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA
C1NH (C1 ESTERASE INHIBITOR, SERPING 1)
 

ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC ECTODERMAL DYSPLASIA 3

EDAR (ECTODYSPLASIN 1)
 
ANIRIDIA, TYPE 2, AN2
PAX6 (PAIRED BOX GENE 6)
 

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME
P63 (TP63)
 Exons 5-8, 13 and 14
ANOPHTHALMIA, ANOP3 206900 SOX2 (SRY-BOX 2)
 184429  
ANOPHTHALMIA WITH PITUITARY MALFORMATION . SIX6
 		 607257   
ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3		 107300 AT3 (SERPINC1)

107300

  
ANTITRYPSINE DEFICIENCY, AAT
PI (ANTITRYPSINE, PROTEASE INHIBITOR)
Alleles M, S and Z
ANTLEY-BIXLER SYNDROME
» TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
» MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
» OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES		 207410 POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
ANTOPOL DISEASE   See DANON DISEASE    
AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS   See AORTIC ANEURYSM, FAMILIAL THORACIC 4    

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

 132900 MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) 160745  
AO TYPE 2   See ATELOSTEOGENESIS TYPE 2    
APERT SYNDROME
» CRANIOSYNOSTOSIS, APERT SYNDROME
FGFR2
2 Mutations: S252W, P253R
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA    
APLASTIC ANEMIA
.
TERC (TELOMERASE RNA COMPONENT)
 
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    

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
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9, ARVD9    

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

 609040

PKP2 (PLAKOPHILIN 2)

 602861  

ARTERIAL TORTUOSITY SYNDROME, ATS

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

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

 208230

WISP3 (WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3)

 603400  
ARYLSULFATASE A DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY    
ARYLSULFATASE B DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6    
ASPERGER SYNDROME (X-LINKED) 300494 NLGN3 (NEUROLIGIN 3) 300336 .
NLGN4 (NEUROLIGIN 4) . .
NLGN3 AND NLGN4 . .
ASYMMETRIC SEPTAL HYPERTROPHY   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL    
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, SPINOCEREBELLAR
.
 
 

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

ATM

607585

.
ATAXIA WITH LACTIC ACIDOSIS I
LACTIC ACIDEMIA, THIAMINE-RESPONSIVE		   See PYRUVATE DECARBOXYLASE DEFICIENCY    
ATELIOTIC DWARFISM WITH HYPOGONADISM   See PITUITARY DWARFISM III    
ATELOSTEOGENESIS, TYPE 1
» GIANT CELL CHONDRODYSPLASIA
» SPONDYLOHUMEROFEMORAL HYPOPLASIA		 108720 FLNB (FILAMIN B) 663381  
ATELOSTEOGENESIS, TYPE 2
» AO TYPE 2
» DE LA CHAPELLE DYSPLASIA
»  NEONATAL OSSEOUS DYSPLASIA 1		 256050 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  
ATELOSTEOGENESIS, TYPE 3 108721 FLNB (FILAMIN B) 663381  
ATROPHIA BULBORUM HEREDITARIA   See NORRIE DISEASE    
ATR-X SYNDROME   See ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)    
ATTENUATED POLYPOSIS COLI
.
 
 
AUTISM (X-LINKED)
 300425 NLGN3 (NEUROLIGIN 3)
 300336 .
NLGN4 (NEUROLIGIN 4)