Familial mutation

Targeted familial mutation analysis

A targeted genetic test designed for individuals with a known family history of a specific cancer-predisposing mutation. Using a highly specific, custom-developed sequencing assay built around the exact familial variant, this test confirms whether an at-risk family member has inherited that change — giving a precise, definitive answer rather than a broad risk estimate. It is not a general cancer screen: the assay looks exclusively at the known inherited variant and does not evaluate other genes or mutations.

• Blood sample (EDTA tube, drawn by a registered phlebotomist) or saliva sample
• Requires the index patient’s genetic report detailing the familial mutation
• Definitive result: presence or absence of the specific familial variant
• Does not screen for other variants or genes
• Streamlined, cost-effective turnaround