Lynch Syndrome Panel, Varies

Clinical Use

Use

This test is used for establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency, which allows for targeted cancer surveillance based on associated risks. It identifies variants in the genes MLH1, MSH2, MSH6, PMS2, or EPCAM, facilitating predictive testing in family members. The identification of disease-causing variants may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Lynch syndrome.

Special Instructions

Not provided.

Limitations

Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur, and there may be regions of genes that cannot be effectively evaluated due to technical limitations. A negative result does not rule out a genetic disorder diagnosis. The test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants. The test cannot reliably detect deletions-insertions larger than 40 bp.

Test Details

New York Approved