Hereditary Nonpolyposis Colorectal Cancer (HNPCC): MLH1 (Known Mutation)

Casandra

Casandra Test Code LC56379Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 511635

Hereditary Nonpolyposis Colorectal Cancer (HNPCC): MLH1 (Known Mutation)

Clinical Use

Use

Identify who in a family harbors the familial mutation and is at high risk of the disease and who does not harbor the familial mutation and is not at increased risk of the disease. Family testing for known familial mutations can identify presymptomatic mutation carriers within affected families who are at high risk of developing the familial disease.

Special Instructions

Only available when the mutation is known and can be documented by the ordering physician. The test order must include attestation of informed consent for genetic testing. For family tests (ie, known mutations), submit the result report of the first family member tested.

Limitations

Cannot detect variants outside covered regions, including noncoding or deep intronic variants, and may not reliably detect changes in repetitive elements. It's not intended for somatic variants nor for detecting mosaic variants or genomic rearrangements. Bone marrow transplantation and recent blood transfusion may affect results.

Test Details