Genetics

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)

DPYD Genotyping for Chemotherapy Toxicity Assessment (DPYD*2A (c.1905+1G>A), DPYD *13 (c.1679T>G; p.Ile560Ser), c.2846A>T (p.Asp949Val) and HapB3 (c.1129–5923C>G)

Molecular genetic diagnosis of Crigler-Najjar syndrome (UGT1A1 gene)

Diagnostics of hereditary prostate cancer (pathogenic variant c.251G>A (p.Gly84Glu) in the HOXB13 gene)

Diagnosis of hereditary form of pancreatitis (pathogenic variant c.365G>A (p.Arg122His) in the PRSS1 gene and c.101A>G (p.Asn34Ser) in the SPINK1 gene)

Extended diagnosis of lactase deficiency (MCM6 c.-13907 C>G, c.-13910 C>T, c.-13915 T>G, c.-14010 G>C)