Lab tests

Prediction of side effects during therapy with Irinotecan (Camptosar, Campto)

Diagnosis of hereditary endothelial corneal dystrophy (Fuchs dystrophy, TCF4 gene)

Molecular genetic diagnosis of MODY-2 diabetes (GCK gene)

Diagnosis of hypochondroplasia (pathogenic variants c.1620C>A (p.Asn540Lys) and c.1620C>G (p.Asn540Lys) in the FGFR3 gene)

Diagnosis of hemolytic anemia associated with pyruvate kinase deficiency (exons 3, 5, 7, 8, 10, 11 of the PKLR gene)

Molecular genetic diagnosis of mitochondrial diseases and Leber's optic atrophy (detection of mitochondrial DNA deletions and duplications and 6 common pathogenic variants)

Study of BRCA1, BRCA2 genes by NGS

Extended diagnostics of pathogenic variants in homologous recombination genes: BRCA1, BRCA2, PALB2,

Laboratory examination for children (0-1 year)

NIPT extended panel (aneuploidies 13, 18, 21, X, Y + 6 microdeletion syndromes in the fetus; carrier