Lab tests

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

Determination of telomere length

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)

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)