Gendia | Molecular Screening Tests

Screening Panels

Disease	Gene	Muatation
Prenatal screening panel (Jewish diseases)
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
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
HEARING LOSS	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
NIEMANN-PICK DISEASE TYPE A/B	SMPD1	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