Hereditary Diseases

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)

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

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)

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