Oncogenetics

Predisposition to colorectal cancer

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

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

Diagnosis of systemic mastocytosis (KIT gene mutation D816V)

Detection of pathological methylation of the SEPT9 gene in blood plasma in colorectal cancer

Diagnostics of hereditary prostate cancer (pathogenic variant c.251G>A (p.Gly84Glu) in the HOXB13 gene)

Detection of 657del5 mutation in the NBS1 gene

Detection of 1100delC and IVS2+1G>A mutations in the CHEK2 gene

Genetic risk of breast and ovarian cancer. Extended profile (4 genes: BRCA1, BRCA2, CHEK2, NBS1)

Study of BRCA1, BRCA2 genes by NGS