Recommended test to confirm a diagnosis of Lynch syndrome (LS) for individuals with a personal and/or family history consistent with LS. Testing minors for adult-onset conditions is not recommended; testing will not be performed in minors without prior approval. For additional information, please contact an ARUP genetic counselor at 800-242-2787 ext. 2141.
To compare this test to other hereditary cancer panels, refer to the Hereditary Cancer Panel Comparison table.
Massively Parallel Sequencing/Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Refer to report.
Laboratory Developed Test (LDT)
Genes Tested: EPCAM*, MLH1, MSH2, MSH6, PMS2
*Deletion/duplication only; sequencing is not available for this gene.
81292; 81294; 81295; 81297; 81298; 81300; 81317; 81319; 81403
|Component Test Code*||Component Chart Name||LOINC|
- Constitutional Mismatch Repair Deficiency (CMMRD)
- Hereditary nonpolyposis colorectal cancer (HNPCC)
- Muir-Torre syndrome
- Turcot syndrome