Familial adenomatous polyposis 2 genes panel
The hereditary nonpolyposis colon cancer, also called familial adenomatous polyposis (FAP) represents nearly 1% of colorectal carcinomas and do not has a characteristic autosomal inheritance pattern. The molecular diagnosis of FAP and AFAP is based on the search for mutations or deletions in the APC gene and / or search for mutations in the gene MUTYH by direct sequencing. An accurate molecular diagnosis can determine if a patient and his family are at increased risk of developing colorectal cancer. Genetic counseling is recommended before the test, to determine the most appropriate test protocol.
This panel simultaneously analyzes the APC and MUTYH genes by NGS. This test detects mutations in both genes by sequencing their coding regions. Detected DNA variants of clinical interest are verified by Sanger sequencing.
