Back to CarrierTest Obsah Stargardt disease (ABCA4) .......................................................................................................................... 4 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (ACADM) ..................................................... 5 Short-chain acyl-CoA Dehydrogenase Deficiency (ACADS) ......................................................................... 6 Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL) ................................................................. 7 Syndromic hearing loss-Usher syndrome (ADGVR1) .................................................................................. 8 Cori disease - GSDIII (AGL) .......................................................................................................................... 9 Hypophosphatasia (ALPL) ......................................................................................................................... 10 ANXA5 M2 haplotype................................................................................................................................ 11 Androgen Insensitivity Syndrome (AR) ..................................................................................................... 12 Metachromatic Leukodystrophy (ARSA) ................................................................................................... 13 Argininosuccinic Aciduria (ASL) ................................................................................................................. 14 Canavan disease (ASPA) ............................................................................................................................ 15 Citrullinemia type I (ASS1) ........................................................................................................................ 16 Ataxia-Telangiectasia (ATM) ..................................................................................................................... 17 Wilson disease (ATP7B)............................................................................................................................. 18 Bloom syndrome (BLM) ............................................................................................................................ 19 Biotinidase Deficiency (BTD) ..................................................................................................................... 20 Homocystinuria, classic (CBS) ................................................................................................................... 21 Syndromic hearing loss-Usher syndrome- USH1D (CDH23) ..................................................................... 22 Cystic fibrosis (CFTR) ................................................................................................................................. 23 Congenital myasthenia (CHRNE) ............................................................................................................... 24 Syndromic hearing loss-Usher syndrome (CLRN1) ................................................................................... 25 Alport syndrome (COL4A5) ....................................................................................................................... 26 Cystinosis (CTNS) ....................................................................................................................................... 27 21-hydroxylase deficiency (CYP21A2) ....................................................................................................... 28 Cerebrotendinous xanthomatosis (CYP27A1) .......................................................................................... 29 Smith-Lemli - Opitz SLOS (DHCR7) ............................................................................................................ 30 Prothrombin thrombophilia (F2) .............................................................................................................. 31 Factor V Leiden thrombophilia (F5) .......................................................................................................... 32 Tyrosinemia type I (FAH) ........................................................................................................................... 33 FSHr polymorphism Ser680Asn (FSHR) ..................................................................................................... 34 Glycogen storage disease, type 1A (G6PC) ............................................................................................... 35 Galactosemia (GALT) ................................................................................................................................. 36 Gaucher disease (GBA) ............................................................................................................................. 37 International Patient Office | Na Poříčí 26 | 110 00 Prague 1 Email: [email protected] | www.gennet.cz 30/11/2017_V3 Back to CarrierTest Glutaric acidemia, type 1 (GCDH) ............................................................................................................. 38 Hearing loss, DFNB1 nonsyndromic (GJB2) .............................................................................................. 39 Fabry disease (GLA) ................................................................................................................................... 40 GM1-gangliosidosis (GLB1) ....................................................................................................................... 41 Mucolipidosis II/III (GNPTAB) .................................................................................................................... 42 Long-chain acyl-CoA dehydrogenase deficiency (HADHA) ....................................................................... 43 Beta-thalassemia (HBB) ............................................................................................................................ 44 Haemoglobin E disease (HBB) ................................................................................................................... 45 Sickle Cell Disease (HBB) ........................................................................................................................... 46 Tay-Sachs disease (HEXA) ......................................................................................................................... 47 Hemochromatosis (HFE) ........................................................................................................................... 48 Mucopolysaccharidosis type I - MPS I-H. (IDUA) ...................................................................................... 49 Mucopolysaccharidosis type IIIA - MPS IIIA. (SGSH) ................................................................................. 50 Familial dysautonomia (IKBKAP) ............................................................................................................... 51 X-linked severe combined immunodeficiency (SCID) (IL2RG) .................................................................. 52 3-Methylcrotonyl-CoA carboxylase deficiency (MCCC1) .......................................................................... 53 3-Methylcrotonyl-CoA carboxylase deficiency (MCCC2) .......................................................................... 54 Familial Mediterranean fever (MEFV) ...................................................................................................... 55 MTHFR deficiency (MTHFR) ...................................................................................................................... 56 Myotubular myopathy (MTM1) ................................................................................................................ 57 Syndromic hearing loss-Usher syndrome type 1 (MYO7A) ...................................................................... 58 Nijmegen Breakage Syndrome (NBN) ....................................................................................................... 59 Niemann-Pick disease (NPC1) ................................................................................................................... 60 Niemann-Pick disease (NPC2) ................................................................................................................... 61 Ornithine transcarbamylase deficiency (OTC) .......................................................................................... 62 Phenylketonuria (PAH) .............................................................................................................................. 63 Syndromic hearing loss-Usher syndrome 1 (PCDH15) .............................................................................. 64 Zellweger Syndrome Spectrum (PEX1) ..................................................................................................... 65 Zellweger Syndrome Spectrum (PEX6) ..................................................................................................... 66 Zellweger Syndrome Spectrum ( PEX2 , PEX10, PEX12, PEX13, PEX14 and PEX16) ................................. 67 Chondrodysplasia punctata (PEX7) ........................................................................................................... 68 Congenital disorder of glycosylation- CDG (PMM2) ................................................................................. 69 Alpha-1 antitrypsin deficiency