Lynch Syndrome, MSH6 Sequencing and Deletion/Duplication
Also known as: HNPCC Mismatch Repair Gene Mutation, Hereditary Nonpolyposis Colon Cancer (HNPCC)
Use
This test is used to identify individuals with Lynch syndrome (hereditary non‑polyposis colorectal cancer, HNPCC) by detecting single‑nucleotide variants, deletions, and duplications in the MSH6 gene, which encodes the mismatch repair protein MSH6. It is clinically indicated for individuals with a personal or family history of Lynch syndrome–related cancers and/or tumor testing (such as IHC or MSI) suggestive of MSH6 gene involvement, following genetic counseling and informed consent. The test helps inform risk to relatives given the autosomal dominant inheritance pattern.
Special Instructions
Not provided.
Limitations
A negative result does not rule out Lynch syndrome; limitations include inability to detect all variant types or regions not analyzed, and variant interpretation may change over time. Variant of uncertain significance (VUS) results may be reclassified as knowledge evolves. Positive results do not equate to a cancer diagnosis but indicate increased risk and autosomal dominant inheritance. Management should follow current NCCN guidelines.
Methodology
NGS (Targeted)
Biomarkers
MSH6
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
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