BREAST CANCER TEST
Why get tested?
This test is offered following a negative result for the analysis of BRCA1 and BRCA2 genes.
What the test detects
The test aims to identify pathogenetic mutations for the the genes ATM, BARD1, CDH1, CHEK2, NBN, PALB2, PTEN, STK11, TP53 following a negative result for the genes BCRA1 and BCRA2.
What variants cause
Variations of these genes are related to an increased risk of developing breast cancer. Breast cancer is the most common cancer in women, with an incidence of 1 every 8 women (12%) of which 5-10% shows 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 ATM, BARD1, CDH1, CHEK2, NBN, PALB2, PTEN, 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.
Results in 30 working days.
Sensitivity and specificity
Sensitivity, specificity analytical accuracy > 99%.