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Test Code 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.

 

See Lynch Syndrome Testing Algorithm

Reporting Name

MLH1 Hypermethylation/BRAF Mutation

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

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

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