Lynch Syndrome Panel
Also known as: MLH1, HNPCC, MSH2, MSH6, PMS2
Use
This test is used to identify individuals with Lynch syndrome (hereditary non‑polyposis colorectal cancer, HNPCC) by analyzing five key genes — MLH1, MSH2, MSH6, PMS2, and EPCAM (with EPCAM deletions disrupting MSH2 transcription). It is indicated for individuals with personal or family histories of Lynch-associated cancers or with evidence of mismatch repair deficiency via MSI or IHC, or a ≥2.5 % risk per predictive models. Informed consent after genetic counseling is strongly recommended.
Special Instructions
Not provided.
Limitations
This test is limited to the five specified genes and does not analyze other hereditary cancer genes or all regions of these genes. Rare or novel variants may remain of uncertain significance. False positives or negatives may occur; results must be interpreted alongside clinical and family history, and additional testing may be appropriate.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Not provided.
Other tests from different labs that may be relevant