Targeted Analysis: Known Familial Mutation

Targeted known mutation analysis can be requested on a family member for any sequence variant identified by Sanger sequencing or Next Generation Sequencing (NGS).

Turnaround Time

14 days

CPT Code(s)

81403

Cost

$350

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube - at least 2-3ml for pediatric patients and 5-6ml for adult patients.

The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal diagnosis is available if the familial mutations are known. The cost of prenatal diagnosis is different than postnatal testing. In addition, there may be extra costs associated with cell culture and maternal cell contamination. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.