Lab tests

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)

Efficacy of therapy with "Clopidogrel", extended (CYP2C19*2, *3, *17)

Diagnostics of transient antithrombin-3 deficiency in thrombophilias (p.Ala416Ser, p.Arg79His, p.Pro73Leu, p.Val30Glu)

Comprehensive diagnostics of hereditary causes of liver damage (HFE, ATP7B, A1AT, PNPLA3 genes)

Diagnosis of hereditary T- and B-cell immunodeficiencies – quantification of KREC and TREC

Molecular genetic diagnosis of MODY3 diabetes (HNF1A gene)