Individuals bearing a mutation in the APC gene have an increased risk (>95%) to manifest colorectal cancer with polyps until the age of 40. Patients presenting the classic form of the disease, with hundreds or even thousands of polyps, have a greater probability (>90%) to harbor a mutation in the APC gene whilst patients with <100 polyps (attenuated FAP) have a relatively smaller probability (<30%). Timely detection of any existing mutations can be crucial in confirming disease diagnosis and may also help substantially in predisposition testing.
Familial adenomatous polyposis (FAP) – APC gene
We perform DNA sequence analysis, via Next Generation Sequencing (NGS) on a Genome Analyzer – Ion Proton platform, of all exons and intron-exon junctions/splice sites of the APC gene, as well as deletion/duplication analysis through MLPA (non-detectable by DNA sequencing), allowing us to detect >98% of all pathogenic mutations of the gene.
Please note that InterGenetics participates successfully in the EMQN external quality control (EQA) scheme for genetic testing of familial adenomatous polyposis.