Preferred screening test for Lynch syndrome (LS) in individuals with colorectal cancer. Definitive diagnosis of LS requires additional targeted MMR germline mutation studies. Do not use for endometrial cancer.
- Patient Preparation
- Tumor tissue.
- Specimen Preparation
- Formalin fix (10 percent neutral buffered formalin is preferred) and paraffin embed tissue. If sending precut slides, do not oven bake. Transport tissue block or 15 unstained (3- to 5-micron thick sections), positively charged slides in a tissue transport kit (ARUP supply #47808). Available online through eSupply using ARUP Connect™ or contact ARUP Client Services at (800) 522-2787. (Min: 10 slides). Protect paraffin block and/or slides from excessive heat.
- Storage/Transport Temperature
- Room temperature or refrigerated. Ship in cooled container during summer months.
- Unacceptable Conditions
- Less than 25 percent tumor. Specimens fixed/processed in alternative fixatives (alcohol, Prefer®). Decalcified specimens.
- Include surgical pathology report. Submit electronic request. If you do not have electronic ordering capability, use an ARUP requisition form complete with an ARUP client number. For additional technical details, please contact ARUP Client Services at (800) 522-2787.
- Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
Refer to the Colorectal Cancer or Lynch Syndrome topic at arupconsult.com.
|Component Test Code*||Component Chart Name||LOINC|
|0049199||Client Case or Ref #||49581-2|
|0049303||Mismatch Repair by IHC, Result||50595-8|
|0049305||Mismatch Repair by IHC with MLH1||50322-7|
|0049310||Mismatch Repair by IHC with MSH2||50323-5|
|0049320||Mismatch Repair by IHC with MSH6||50324-3|
|0049325||Mismatch Repair by IHC with PMS2||50328-4|
- MSI reflex to BRAF and MLH1 Methylation
- MSI with BRAF, MLH1reflex