This genetic test is proposed as a predictive test for ovarian cancer, or to confirm a clinical suspicion in an individual already affected.

The test aims to identify pathogenetic variants for BRCA1, BRCA2, BRIP1, EPCAM (3’ UTR deletion), MLH1, MSH2, MSH6, PMS2, RAD51C, RAD51D, STK11, TP53 genes.

Variants in these genes are related to an increased risk of ovarian/falloppian tube cancer. In the general population, the incidence of ovarian cancer is of 1 in 75 women (1.4%) and 15-20% of the cases are due to an hereditary predisposition.

The test consists in a blood test, in the extraction of genomic DNA and in the analysis of the full coding sequence and related exon/intron junctions of the genes BRCA1, BRCA2, BRIP1, EPCAM (3’ UTR deletion), MLH1, MSH2, MSH6, PMS2, RAD51C, RAD51D, STK11, TP53 using NGS technology. The test also allows for the analysis of the number of copies by quantitative dosage of genomic DNA through the use of molecular probes in the BRCA1, BRCA2 and EPCAM genes.

Results in 30 working days.

Sensitivity, specificity analytical accuracy > 99%.