Lynch Syndrome Panel [A Test in Focus]
Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC) is an autosomal dominant hereditary cancer syndrome associated with germline mutations in the mismatch repair genes, MLH1, MSH2, MSH6, and PMS2. Deletions within the 3' end of the EPCAM gene, which lead to inactivation of the MSH2 promotor, have also been associated with Lynch syndrome.
Lindsey Waltman, CGC, gives an overview of this test available through Mayo Clinic Laboratories. She discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.
- Establishing a diagnosis of Lynch syndrome
- Identification of familial MLH1, MSH2, MSH6, PMS2, or EPCAM mutations to allow for predictive testing in family members
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
1. Invert several times to mix blood.
2. Send specimen in original tube.
1. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
2. Prior Authorization is available for this assay; see Special Instructions. Submit the required form with the specimen.