Why get tested?
This genetic test is proposed as a predictive test for endometrial cancer, or to confirm a clinical suspicion in an individual already affected.
What the test detects
The test seeks to search for pathogenetic variants in EPCAM (3’ UTR deletion), MLH1, MSH2, MSH6, PTEN, STK11 and TP53 genes.
What variants cause
Variants in these genes are related to an increased risk of endometrial cancer. In the general population, the incidence of endometrial cancer (uterine cancer) is of 1 in 36 women (2.8%) and 15-20% of the cases are due to an hereditary predisposition.
How testing works
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 EPCAM, MLH1, MSH2, MSH6, PTEN, STK11 e TP53 using NGS technology. The test also allows the analysis of the copy number variations by quantitative dosage of genomic DNA through the use of molecular probes in the EPCAM gene.
Results in 30 working days.
Sensitivity and specificity
Sensitivity, specificity analytical accuracy > 99%.