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Test Name

Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication

CPT Code(s)

81317, 81319

Methodology

DNA Sequencing • Multiplex Ligation-dependent Probe Amplification (MLPA)

Reference Range(s)

See Laboratory Report

Clinical Significance

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant genetic disorder characterized by the familial accumulation of early onset colorectal, endometrial and other tumors, and accounts for approximately 3-5% of all colon cancer cases. HNPCC is caused by germline mutations in four genes involved in the DNA mismatch repair pathway: MLH1, MSH2, MSH6, and PMS2. MLH1 and MSH2 mutations account for approximately 90% of HNPCC cases, MSH6 accounts for approximately 7-10%, while PMS2 accounts for less than 5%. The prevalence of PMS2 mutations is not well established but some studies have shown that large deletions account for approximately 21-37% of PMS2 mutations. The prevalence of sequence variants is not well established.

Alternative Name(s)

Hereditary Nonpolyposis Colon Cancer (HNPCC),HNPCC Mismatch Repair Gene Mutation

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Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.

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Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication
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