Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication

Test Code

CPT Codes
81317, 81319

If "Result" is positive, cascading reflex to Path Variant, Variant 1, and VUS will be performed as needed.

Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube

Minimum Volume
2 mL whole blood

Other Acceptable Specimens
Saliva collected in the Oragene-Dx collection kit or
15 mL amniotic fluid collected in sterile container or
20 mg chorionic villus (CVS) tissue with 2-3 mL of sterile saline or tissue culture medium collected in sterile container or
Cultured cells in 2 T-25 flasks with 80-100% confluent growth or
Skin fibroblasts collected in sterile plastic container

For amniotic fluid, chorionic villus (CVS), and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.

Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the “fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT eat, drink, smoke or chew gum for 30 minutes before collection. Do NOT remove the plastic film from the funnel lid. Once sample is collected, tighten the cap on the tube. Please follow included instructions for use.
For amniotic fluid, chorionic villus (CVS), and skin fibroblasts: Call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.

Transport Container
EDTA (lavender-top) tube or ACD (yellow-top) tube

Transport Temperature
Room temperature

Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days

Amniotic fluid (AF), chorionic villus (CVS), skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Clotted whole blood

DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up: Tues, Thurs, Sat; Report available: 14-21 days from completed pre-authorization

Reference Range
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.

Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042

The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.