Mutation Specific Testing

Mutation specific testing is done to check for known mutations in unaffected family members based on genetic reports done for any cancer (or otherwise) affected patient in the same family. This is a Sanger sequencing-based test that can check for single gene variants. It can be done when a pathogenic/likely pathogenic mutation is identified in the patient with cancer. This test is also very useful for parents and siblings to check for the germline gene mutation (predisposition) for the same variant.