Screening Panels

(筛选策略)


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)
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