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HelpTest ID BRMLH MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
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 |
|---|---|---|---|
| BMLHH | MLH1 Hypermethylation Analysis | Yes, (order ML1HM) | No |
| BBRAF | BRAF Analysis | Yes, (order BRAFD) | 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, only the MLH1 hypermethylation analysis component will be performed.
When this test is ordered, slide review will always be performed at an additional charge.
Special Instructions
Method Name
Methylation-Specific Polymerase Chain Reaction (PCR) and Digital Droplet Polymerase Chain Reaction (ddPCR)
Reporting Name
MLH1 Hypermethylation/BRAF MutationSpecimen Type
VariesOrdering Guidance
This test is not recommended as a first-tier screening for Lynch syndrome. Order TMSI / Microsatellite Instability, Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only.
This test will only be performed on colon tumors demonstrating loss of MLH1 protein expression.
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) Performed
Varies
Report Available
7 to 14 daysPerforming 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 | 97761-1 |
| 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 | 85069-3 |
| 621822 | Disclaimer | 62364-5 |
| 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. It has not been cleared or approved by the US Food and Drug Administration.Forms
1. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)
2. If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Disease States
- Lynch syndrome