Genetics

PNPLA3 Gene Genotyping in Non-Alcoholic Fatty Liver Disease

Comprehensive diagnostics of familial hypercholesterolemia (APOB100, LDLR, PCSK9)

Detection of expansion in frontotemporal dementia and amyotrophic lateral sclerosis (C9orf72)

Genodiagnostics of MEN 1, 2A, 2B syndrome and familial thyroid cancer (MEN (2 exons) and RET (6 exons))

Genodiagnostics of Z and S alleles in alpha-1 antitrypsin deficiency

Genodiagnostics of Resistance to Hepatitis C Therapy, Types 1a, 1b, 3 (NS3, NS5A, NS5B)

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