Test Code BRMLH MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
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.
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 |
Specimen 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 |
Reject Due To
Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded Extracted DNA |
Reject |
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
7 to 14 daysSpecimen Retention Time
Extracted DNA: 3 monthsPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT 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