MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
Use
This test is used as an adjunct in evaluating cases where colon tumors demonstrate microsatellite instability (MSI-H) and loss of MLH1 protein expression. It helps distinguish between somatic and germline events, particularly when performing expensive germline testing is considered. It is useful in cases where colon tumor from the same patient demonstrates MSI-H and loss of MLH1 protein expression and when negative MLH1 germline testing has been documented. The test is not a genetic test but helps stratify the risk for having an inherited cancer predisposition.
Special Instructions
Not provided.
Limitations
The test is specifically developed for colon tumors and other tissues like endometrial tumors may have limited evaluation, performing only the MLH1 hypermethylation. Colon cancer may occur in Lynch syndrome families as sporadic events, therefore other family members should still be considered for evaluation in cases without BRAF V600E alteration and with MLH1 promoter hypermethylation.
New York Approved
Methodology
PCR-based (Methylation-Specific PCR)
Biomarkers
LOINC Codes
- 97761-1 - MLH1 Methyl Anl Tumor
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 18771-6 - Provider signing name
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with an acceptable amount of tumor tissue.
Causes for Rejection
Specimens that have been decalcified, specimens that have not been formalin-fixed, paraffin-embedded, extracted DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |