Recommended reflex test for differentiating between Lynch syndrome and sporadic colorectal cancer in tumors showing loss of MLH1. If no BRAF mutation is detected, MLH1 promoter methylation is evaluated.
Assay: Mon, Wed, Fri
- Patient Preparation
- Tumor tissue.
- Specimen Preparation
- Formalin fix (10 percent neutral buffered formalin) and paraffin embed tissue. Tissue block will be returned after testing.
Transport tissue block or 5 unstained 5-micron 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: 3 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) or heavy metal fixatives. Decalcified specimens.
- Include surgical pathology report.
- Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable
|Test Number||Components||Reference Interval|
| ||BRAF codon 600 Mutation Detection||By report|
| ||MLH1 Promoter Methylation||By report|
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
|Component Test Code*||Component Chart Name||LOINC|
|0051751||BRAF codon 600 Mutation Detection|
- BRAF Gene Mutation Assay
- EGFR targeted therapy
BRAF Mutation Analysis
- sporadic Lynch Syndrome