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.

Mnemonic

LS NGS

Methodology

Massively Parallel Sequencing/Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (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: 1 week; Frozen: Unacceptable

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