Genetics

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

Detection of fetal RHD gene in maternal blood. Fetal Rh factor

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

NIPT Panorama (Natera, USA), Extended Panel - Non-Invasive Prenatal DNA Test for 13 Syndromes with Fetal Sex Determination

Genetic diagnosis of hereditary hypercholesterolemia (APOB100 gene)

Diagnosis of systemic mastocytosis (KIT gene mutation D816V)

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