Ordering Recommendation

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.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing/Sequencing/Multiplex Ligation-Dependent Probe Amplification (MLPA)

Performed

Varies

Reported

14-21 days

Reference Interval

By report

Interpretive Data

Refer to report.  

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes Tested: EPCAM*, MLH1, MSH2, MSH6, PMS2
*Deletion/duplication only; sequencing is not available for this gene.

Hotline History

N/A

CPT Codes

81292; 81294; 81295; 81297; 81298; 81300; 81317; 81319; 81403

Components

Component Test Code* Component Chart Name LOINC
3001682 LS Specimen 66746-9
3004602 LS Interp 79570-8
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • Constitutional Mismatch Repair Deficiency (CMMRD)
  • Hereditary nonpolyposis colorectal cancer (HNPCC)
  • Muir-Torre syndrome
  • Turcot syndrome
Lynch Syndrome Panel, Sequencing and Deletion/Duplication