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HelpTest ID BRMLH MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor, Varies
Useful For
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein expression, to help distinguish a somatic versus germline event prior to performing expensive germline testing
An adjunct to negative MLH1 germline testing in cases where colon tumor from the same patient demonstrates MSI-H and loss of MLH1 protein expression
Genetics Test Information
If this test is ordered in conjunction with the MLH1 immunostain (IHC / Mismatch Repair [MMR] Protein Immunohistochemistry Only, Tumor) and MSI (MSI / Microsatellite Instability [MSI], Tumor), this test will only be performed when clinically indicated.
Profile Information
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| PBMLH | MLH1 Hypermethylation/BRAF Mutation | No | Yes |
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| BBRAF | BRAF Analysis | Yes, (order BRAFT) | No |
| BMLHH | MLH1 Hypermethylation Analysis | Yes, (order ML1HM) | No |
Testing Algorithm
When this test is ordered, BRAF analysis and MLH1 hypermethylation analysis will always be performed. The exception would be if the tissue origin is an endometrial tumor; in those cases MLH1 hypermethylation analysis will be performed. If an endometrial tumor does not show loss of MLH1 by immunohistochemistry, we could still run BRAF and not do MLH1 hypermethylation.
When this test is ordered, slide review will always be performed at an additional charge.
See Lynch Syndrome Testing Algorithm in Special Instructions.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) Analysis
Reporting Name
MLH1 Hypermethylation/BRAF MutationSpecimen Type
VariesAdvisory Information
This test is not recommended as a first-tier screening measure for hereditary nonpolyposis colon cancer (HNPCC). Please refer to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor. Testing will only be performed on colon tumors demonstrating microsatellite instability or immunohistochemistry results indicating loss of MLH1 protein expression. Extracted DNA from tissues is not an acceptable specimen type.
Necessary Information
Pathology report must accompany specimen in order for testing to be performed.
Specimen Required
Specimen Type: Tissue block or slide
Collection Instructions:1. Submit formalin-fixed, paraffin-embedded tissue block (preferred) or 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides (5 micron-thick sections) of the tumor tissue.
2. Sections should contain both tumor and normal tissue.
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reference Values
An interpretive report will be provided.
Day(s) and Time(s) Performed
Weekly; Varies
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
Slide Review
88381-Microdissection, manual
81210-BRAF (v-raf murine sarcoma viral oncogene homolog B1) (eg, colon cancer), gene analysis, V600E variant, if appropriate
81288-MLH1 promoter methylation analysis, if appropriate
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BRMLH | MLH1 Hypermethylation/BRAF Mutation | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 53223 | Result Summary | 50397-9 |
| 53224 | Result | 82939-0 |
| 53225 | Interpretation | 69047-9 |
| 53226 | Specimen | 31208-2 |
| 53227 | Source | 31208-2 |
| 53228 | Tissue ID | 80398-1 |
| 55139 | Method | 49549-9 |
| 54921 | BRAF Analysis | No LOINC Needed |
| 54440 | MLH1 Hypermethylation Analysis | No LOINC Needed |
| 53229 | Released By | 18771-6 |
NY State Approved
YesTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.Forms
1. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions
2. If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.