Genetics

Molecular genetic analysis for von Willebrand disease types 1, 2A, 2B, 2M, 2N, 3 (VWF gene exons 18-21 and 28)

Assessment of the effect of CYP2D6 and CYP2C19 on the metabolism of serotonin/norepinephrine reuptake inhibitor antidepressants (escitalopram, citalopram, sertraline, fluvoxamine, paroxetine, venlafaxine)

Full-gene molecular genetic investigation for hereditary protein C deficiency (PROC gene)

Molecular genetic diagnosis of hypophosphatasia (ALPL gene)

Molecular genetic diagnosis of Pompe disease (exons 2, 4, 5, 6, 7, 8, 10, 11, 13, 14, 19 of the GAA gene)

Diagnosis of hereditary fructosemia (p.A149P (c.448G>C ; p.Ala150Pro), p.A174D (.524C>A;p.Ala175Asp) in ALDOB gene)

Diagnosis of Leber Hereditary Optic Neuropathy (pathogenic variants c.152A>G (p.Tyr51Cys) in the DNAJC30 gene, m.11778G>A, m.14484T>C, m.3243A>G, m.3460G>A, m.8344A>G, m.8993T>G)

Detection of pathological methylation of the SEPT9 gene in blood plasma in colorectal cancer

Diagnosis of Autoinflammatory Diseases (MEFV, MVK, TNFRSF1A, NLRP3, NOD2, LPIN2, PLCG2, PSTPIP1, IL1RN, IL10RA, IL10RB Genes) (NGS)

Molecular genetic detection of the HLA-B57 gene (risk of hypersensitivity to abacavir)