Generom | Screening Panels

Game de screening

Preturile testelor sint in Euro, dar pot fi convertite in lei la cursul valutar al zilei.

Boala	Gena	Mutatia
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
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
TAY-SACHS DISEASE CANAVAN DISEASE BLOOM SYNDROME NIEMANN-PICK DISEASE TYPE A FANCONI ANEMIA TYPE C GLYCOGENOSIS TYPE 1A MUCOLIPIDOSIS TYPE 4 CYSTIC FIBROSIS FAMILIAL DYSAUTONOMIA	HEXA ASPA RECQL3 SMPD1 FANCC GSD MCOLN1 CF IKBKAP	Screening al mutatiilor evreilor** *Pentru mai multe informatii privind mutatiile vedeti mai jos.
TAY-SACHS DISEASE	HEXA	1277insTATC, IVS12+1G-C, G269S
CANAVAN DISEASE	ASPA	Y231X and E285A
BLOOM SYNDROME	RECQL3	2281del6 / ins7
NIEMANN-PICK DISEASE TYPE A	SMPD1	DelR608, FSP330, L302P, R496L
FANCONI ANEMIA TYPE C	FANCC	IVS4+4A>T
GLYCOGENOSIS TYPE 1A	GSD1A	R83C
MUCOLIPIDOSIS TYPE 4	MCOLN1	511-6944del and 5534A>G
CYSTIC FIBROSIS	CF	DF508, G542X, W1282X, N1303K, 3849+10KbC>T, D1152H, 1717+1G->A
FAMILIAL DYSAUTONOMIA	IKBKAP	2507+6T>C
GAUCHER DISEASE	GBA	84GG, IVS2+1, N370S, 1297T, L444P, V394L
ANTITRYPSINE DEFICIENCY	PI	E342K (Z Allele)
USHER SYNDROME TYPE 1	PCDH15	R245X
MAPLE SYRUP DISEASE	BCKDHB	R183P
NEMALINE MYOPATHY	NEB	2502del
HEARING LOSS	GJB2	35delG and 167delT
HEARING LOSS	GJB6	300 kb del
Gama de screening prenatal (standard)
CYSTIC FIBROSIS CHROMOSOMES	CFTR	30 mutation kit
Gama de screening prenatal BAIETI (extinsa)
CYSTIC FIBROSIS SPINAL MUSCULAR ATROPHY CHROMOSOMES	CFTR SMN1	30 mutation kit Deletion
Gama de screening prenatal FETE (extinsa)
CYSTIC FIBROSIS SPINAL MUSCULAR ATROPHY FRAGILE X (only females) CHROMOSOMES	CFTR SMN1 FMR1	30 mutation kit Deletion Repeat
Gama trombofilica
THROMBOPHILIC PANEL	FACTOR 5 Leiden FACTOR 2 MTHFR	G1691A G20210A C677T, A1298C
Gama infertilitatii masculine
CBAVD (CONGENITAL BILATERAL VAS DEFERENS AGENESIS) Y DELETIONS	CFTR AZF	30 mutation kit Deletions AZFa,b,c
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)	.	.