Lynch Syndrome Panel

Test Code
91461


CPT Codes
81295, 81297, 81292, 81294, 81298, 81300, 81317, 81319, 81403

Includes
If "Result" is positive, cascading reflex to Path Variant, Variant 1, Variant 2, Variant 3, and VUS will be performed as needed.


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


Minimum Volume
2 mL whole blood


Other Acceptable Specimens
2 mL saliva to the "FILL TO" line collected in OGD-500, Oragene-Dx Collection Kit • 15 mL Amniotic Fluid collected in Sterile T-25 culture flask or equivalent • 2 flasks Amniotic Fluid collected in 2 Sterile T-25 culture flasks or equivalent with 80-100% confluent growth • 2 Flasks Fibroblasts collected in Sterile T-25 culture flask or equivalent with 80-100% confluent growth • 2 Flasks Chorionic Villus (CVS) collected in 2 Sterile T-25 culture flasks or equivalent with 80-100% confluent growth • 20 mg Direct Chorionic Villus (CVS) tissue with 2-3 mL of sterile saline or tissue culture medium collected in sterile plastic container • Skin Fibroblasts collected in Sterile plastic container


Instructions
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 Temperature
Room temperature


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

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

Fibroblasts, Amniotic fluid, Chorionic Villus, Skin Fibroblasts, Direct Chorionic Villus
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable


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


Methodology
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: 15-22 days from completed pre-authorization


Reference Range
See Laboratory Report


Clinical Significance
Lynch syndrome, is the most common form of hereditary colon cancer predisposition, accounting for 2% to 4% of all colorectal and endometrial cancer cases. This test detects pathogenic variants in the MLH1, MSH2, MSH6, PMS2, and EPCAM (dosage ONLY) genes.


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.