Disease Gene Muatation Gama de screening prenatal (Boli ale evreilor) 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 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) . .