Lynch Syndrome via the MSH2 Exons 1-7 Inversion
Use
This test is intended for individuals for whom prior genetic testing was negative or detected a single variant associated with autosomal recessive disease in the relevant gene, with a high clinical suspicion for the disease caused by that particular gene. It is also indicated for family members of patients who have tested positive for particular deletions, duplications, or inversions in the MSH2 gene.
Special Instructions
The test leverages targeted PCR to identify specific inversions in the MSH2 gene. Ideal for cases where previous genetic tests have failed to confirm the diagnosis, yet a clinical suspicion of Lynch syndrome remains. Stat testing options are available with faster turnaround times upon request.
Limitations
This test specifically targets the MSH2 Exons 1-7 inversion and may not detect other deletions, duplications, or inversions outside this region or involving other genes. While targeted PCR is effective for known inversions, unknown variants or mutations not covered by this assay will not be detected. As with any genetic test, results must be interpreted within the context of the entire clinical picture and family history.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided