Hereditary Diseases

Full-gene molecular genetic investigation for familial hypercholesterolemia (LDLR, APOB, PCSK9, LDLRAP1 genes) by NGS

Diagnosis of Rare Autoinflammatory Syndromes. TRAPS Syndrome, Hyper-IgD Syndrome (TNFRSF1A gene, MVK gene)

Genetic diagnosis of alpha-thalassemia (mutations in the HBA gene)

Genetic diagnosis of hereditary hypercholesterolemia (APOB100 gene)

Whole-gene molecular genetic investigation for congenital angioedema (SERPING1 gene)

Full-gene molecular genetic analysis for Antithrombin III deficiency (SERPINC1 gene)

Whole-gene molecular genetic analysis for Protein S deficiency (PROS1 gene)

Diagnosis of Small Pathogenic Variants of Duchenne and Becker Muscular Dystrophy (DMD) by NGS

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

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