Lab tests

Whole Exome Sequencing

Full-gene molecular genetic study of BRCA1, BRCA2, ATM, PALB2, CHEK2 genes by NGS method

Non-invasive prenatal test Prenetix-3 for fetal aneuploidy of chromosomes 13, 18, 21

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)

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)