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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

Varies


Ordering 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 days

Specimen Retention Time

Extracted DNA: 3 months

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