| Boala |
Gena |
Mutatia |
Pretul
in € |
| Gama
de screening prenatal (Boli ale evreilor) |
ASKHENAZI JEWISH DISEASES
(Tay-Sachs Disease, Bloom Syndrome, Canavan Disease, Niemann-Pick A, Familial Dysautonomia, Torsion Dystonia, Mucolipidosis Type IV, Fanconi Anemia, Gaucher Disease, Factor XI Deficiency, Glycogen Storage Disease Type Ia , Maple Syrup Urine Disease, Non-Syndromic Sensorineural Hearing Loss, Familial Mediterranean Fever, Alpha 1-Anti-Trypsin Deficiency, Nemaline Myopathy, Usher Syndrome Type IF, Familial Hyperinsulinemia, Lipoamide Dehydrogenase Deficiency and Glycogen Storage Disease Type III, Familial Hypercholesterolemia, Cystic Fibrosis) |
Microarray Test with 77 mutations in 22 genes:
HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKHDB, GJB2, MEFV, GDE, GBA, SERPINA1, NEB, DLD, PCDH15, ABCC8, LDLR and CFTR
|
77 Mutations in 22 Genes |
600 |
| ANTITRYPSINE DEFICIENCY |
PI |
E342K (Z Allele) |
150 |
| BLOOM
SYNDROME |
RECQL3 |
2281del6 / ins7 |
150 |
| CANAVAN DISEASE |
ASPA |
Y231X and E285A |
150 |
| CYSTIC FIBROSIS |
CF |
DF508, G542X, W1282X, N1303K, 3849+10KbC>T, D1152H, 1717+1G->A |
150 |
| FAMILIAL DYSAUTONOMIA |
IKBKAP |
2507+6T>C |
150 |
| FANCONI ANEMIA TYPE C |
FANCC |
IVS4+4A>T |
150 |
| GAUCHER DISEASE |
GBA |
84GG, IVS2+1, N370S, L444P, V394L |
150 |
| GLYCOGENOSIS TYPE 1A |
GSD1A |
R83C |
150 |
| HEARING LOSS |
GJB2 |
35delG and 167delT |
150 |
| GJB6 |
300 kb del |
| MAPLE SYRUP DISEASE |
BCKDHB |
R183P |
150 |
| MUCOLIPIDOSIS TYPE 4 |
MCOLN1 |
511-6944del and 5534A>G |
150 |
| NEMALINE MYOPATHY |
NEB |
2502del |
150 |
| NIEMANN-PICK DISEASE TYPE A/B |
SMPD1 |
DelR608, FSP330, L302P |
150 |
| R496L |
150 |
| TAY-SACHS DISEASE |
HEXA |
1277insTATC, IVS12+1G-C, G269S |
150 |
| USHER SYNDROME TYPE 1 |
PCDH15 |
R245X |
150 |
| Gama
de screening prenatal (standard) |
CYSTIC
FIBROSIS
CHROMOSOMES |
CFTR
|
30 mutation
kit |
190 |
| Gama
de screening prenatal BAIETI (extinsa) |
CYSTIC
FIBROSIS
SPINAL MUSCULAR ATROPHY
CHROMOSOMES |
CFTR
SMN1
|
30
mutation kit
Deletion |
310 |
| Gama
de screening prenatal FETE (extinsa) |
CYSTIC
FIBROSIS
SPINAL MUSCULAR ATROPHY
FRAGILE X (only females)
CHROMOSOMES |
CFTR
SMN1
FMR1 |
30
mutation kit
Deletion
Repeat
|
430 |
| Gama
trombofilica |
| THROMBOPHILIC
PANEL |
FACTOR
5 Leiden
FACTOR 2
MTHFR
|
G1691A
G20210A
C677T, A1298C |
250 |
| Gama
infertilitatii masculine |
CBAVD
(CONGENITAL BILATERAL VAS DEFERENS AGENESIS)
Y DELETIONS |
CFTR
AZF
|
30
mutation kit
Deletions AZFa,b,c |
190 |
| Gama
avorturilor recurente |
THROMBOPHILIC
FACTORS (ACA, Lupus Anticoagulant, Thrombin Antithrombin Complexes
(AT3 ), APC resistancy, Homocystine test, Protein S, Protein
C)
HORMONAL PROFILE (FSH, LH, TSH, PROLACTINE)
HLA TYPING (wife and husband)
CHROMOSOME ANALYSIS (wife and husband)
FULL BLOOD COUNT
INFECTIONS (Chlamydia, CMV) |
.
|
. |
360 |
|
