Determination of the karyotype
- Cystic fibrosis: CFTR gene mutations.
- Miodistrofiey Duchenne - Becker: Deletions of exons (promoter region exon 1 ekzony 3, 43, 50, 13, 6, 47, 60, 52, 45, 48, 19, 17, 51, 8, 12, 44, 4) gene dystrophin
- Spinal muscular amiotrofiya: deletion of 7th and 8 - the first exon of the gene telomeric SMN, 5 ekznu gene deletions NAIP (neuronal apoptosis inhibitor).
- Phenylketonuria: PAH gene mutations: R408W, R158Q, Y414C
- Nijmegen Syndrome: gene mutation 657del5 NBS1.
- Ataxia - telangiectasia, mutated ATM: IVS 53-2A-G, 5932G-T, 3214G-T, 7636del9, 3245ATC-TGAT, 6095 G-A, 7010del G-T.
- Hereditary hemochromatosis: H63D mutation and S282Y gene HFE.
- Achondroplasia - mutated FGFR3.
- CFTR-related disorders - phenotypic manifestations associated with mutations in the CFTR gene:
- disseminated bronchiectasis;
- chronic pancreatitis;
- chronic sinusitis;
- congenital aplasia of vas deferens;
- Hereditary lactose intolerance (hypolactasia) - Analysis of gene polymorphisms in LCT.
Genes susceptibility to various pathological conditions
- Allelic variants of genes folatnoho metabolism (MTHFR S677T, A1298C; MTRR A66G; MTR A2756G), 2R / 3R gene polymorphism TS (tymidylat synthase TYMS) - susceptibility to disease, atherosclerosis, myocardial infarction, thrombosis, defects of neural tube, anencephaly, Obstetric Pathology , cancer pathology.
- Mutations in genes encoding coagulation factor V (Leiden mutation (FVL) and II factor (prothrombin G20210A (FII), 675 5G / 4G promoter polymorphism of PAI-1 gene - a predisposition to thrombosis, thromboembolism and trobofiliy planning hormonal contraception.
- Polymorphic variants receptor gene of vitamin D3 - susceptibility to osteoporosis.
- ApaI polymorphism of exon 9 of the gene IGF-II - insulin-like growth factor 2.
- The genes of detoxification system - CYP1A1; mEPHX; GSTM, GSTT1; GSTR1; NAT2shylnist to asthma, endometriosis, cancer pathology, planning, medication, work with toxic factors.
- Immunogenetic profile - single-nucleotide polymorphism SNP IL-10, TNF-a, CTLA4,
- Genes VEGF, ACE, CCR2
Violation of fertility in men
- AZF microdeletions of Y-chromosome region: sY14 (SRY), sY84, sY86, sY127, sY134, sY254, sY255 (in violation of spermatogenesis).
- Partial deletion AZFs region.
- The mutations characteristic of genital form of cystic fibrosis (with idiopathic male infertility).
- Sexing - the presence of the gene SRY.
Prenatal molecular genetic diagnosis
- Cystic fibrosis, phenylketonuria, Nijmegen syndrome, spinal amiotrofiya, achondroplasia
- Determination of fetal Rh affiliation suspected Rh - sensitization.
- Tipping alleles at large histocompatibility complex idiopatychnonomu infertility DQA1, DRB DQV1 HLA-II. (Immunological infertility)