| Disease |
Gene |
Muatation |
| Prenatal screening panel (Jewish
diseases) |
| ASKHENAZI JEWISH DISEASES |
Microarray Test with 83 mutations in 16 genes:
HEXA,
RECQL3, ASPA, FANCC, SMPD1, MCOLN1, CF, IKBKAP, DYT1, F11, G6PC,
BCKHDB, MEFV, GJB2, GBA, GDE
|
83
Mutations |
| ANTITRYPSINE DEFICIENCY |
PI |
E342K
(Z Allele) |
| BLOOM SYNDROME |
RECQL3 |
2281del6 / ins7 |
| CANAVAN DISEASE |
ASPA |
Y231X
and E285A |
| CYSTIC FIBROSIS |
CF |
DF508,
G542X, W1282X, N1303K, 3849+10KbC>T, D1152H,
1717+1G->A |
| FAMILIAL DYSAUTONOMIA |
IKBKAP |
2507+6T>C |
| FANCONI ANEMIA TYPE C |
FANCC |
IVS4+4A>T |
| GAUCHER DISEASE |
GBA |
84GG,
IVS2+1, N370S, L444P, V394L |
| GLYCOGENOSIS TYPE 1A |
GSD1A |
R83C |
| HEARING
LOSS |
GJB2 |
35delG
and 167delT |
| GJB6 |
300 kb
del |
| MAPLE SYRUP DISEASE |
BCKDHB |
R183P |
| MUCOLIPIDOSIS TYPE 4 |
MCOLN1 |
511-6944del and 5534A>G |
| NEMALINE MYOPATHY |
NEB |
2502del |
| NIEMANN-PICK
DISEASE TYPE A/B |
SMPD1 |
DelR608, FSP330, L302P |
| R496L |
| TAY-SACHS DISEASE |
HEXA |
1277insTATC, IVS12+1G-C, G269S |
| USHER SYNDROME TYPE 1 |
PCDH15 |
R245X |
| Prenatal screening panel
(standard) |
CYSTIC
FIBROSIS
CHROMOSOMES |
CFTR
|
30 mutation kit |
| Prenatal screening panel MALES
(extended) |
CYSTIC FIBROSIS
SPINAL MUSCULAR ATROPHY
CHROMOSOMES
|
CFTR
SMN1
|
30
mutation kit
Deletion |
| Prenatal screening panel FEMALES
(extended) |
CYSTIC FIBROSIS
SPINAL MUSCULAR ATROPHY
FRAGILE X (only
females)
CHROMOSOMES |
CFTR
SMN1
FMR1
|
30
mutation kit
Deletion
Repeat
|
| Thrombophilic
panel |
| THROMBOPHILIC
PANEL |
FACTOR 5 Leiden
FACTOR 2
MTHFR
|
G1691A
G20210A
C677T, A1298C |
| Male infertility
panel |
CBAVD (CONGENITAL BILATERAL VAS DEFERENS AGENESIS)
Y
DELETIONS |
CFTR
AZF
|
30
mutation kit
Deletions AZFa,b,c |
| Recurrent abortion
panel |
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) |
.
|
. |
|
