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HelpTest ID: BRAFD BRAF V600E/V600K Somatic Mutation Analysis, Tumor
Necessary Information
1. A pathology report (final or preliminary) is required and must accompany specimen for testing to be performed.
2. The following information must be included in the report provided.
-Patient name
-Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)
-Date of tissue collection
-Source of the tissue
Specimen Required
Preferred:
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
Acceptable:
Specimen Type: Tissue slide
Slides: 1 Hematoxylin and eosin stained and 5 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 5 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Useful For
Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers that may not respond to EGFR inhibitors)
Aiding in the diagnosis/prognosis of certain cancers (eg, hairy cell leukemia, papillary thyroid cancers, and association with aggressiveness)
Aiding in determining risk for Lynch syndrome (eg, an adjunct to negative MLH1 germline testing in cases where colon tumor demonstrates MSI-H and loss of MLH1 protein expression)
This test is not intended as a screening test to identify cancer.
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Testing Algorithm
When this test is ordered, slide review will always be performed at an additional charge.
For more information see Lynch Syndrome Testing Algorithm.
Special Instructions
Method Name
Droplet Digital Polymerase Chain Reaction (ddPCR)
Reporting Name
BRAF V600 Somatic Mutation Analysis, TumorSpecimen Type
VariesSpecimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Clinical Information
This test assesses for somatic (tumor-specific) BRAF V600E and V600K mutation. The BRAF gene is a member of the mitogen-activated protein/extracellular signal-regulated (MAP/ERK) kinase pathway, which plays a role in cell proliferation and differentiation. Dysregulation of this pathway is a key factor in tumor progression and BRAF mutations occur frequently in many different tumor types. BRAF mutation analysis aids in the diagnosis of cancer types including anaplastic and papillary thyroid carcinoma, hairy cell leukemia, and papillary craniopharyngioma.
BRAF V600E and V600K mutations are associated with response or resistance to specific targeted therapies in cancer. Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the US Food and Drug Administration for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.
BRAF mutation analysis can provide helpful diagnostic information in the context of evaluation for Lynch syndrome. For more information see Lynch Syndrome Testing Algorithm.
Interpretation
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Clinical Reference
1. Chapman PB, Hauschild A, Robert C, et al. BRIM-3 Study Group. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364(26):2507-2516
2. Di Nicolantonio F, Martini M, Molinari F, et al. Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. J Clin Oncol. 2008;26(35):5705-5712
3. Hyman DM, Puzanov I, Subbiah V, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med. 2015;373(8):726-736
4. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41(9):664-668
Day(s) Performed
Varies
Report Available
6 to 12 daysTest 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.CPT Code Information
81210
88381-Microdissection, manual
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BRAFD | BRAF V600 Somatic Mutation Analysis, Tumor | 97025-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608306 | Result Summary | 50397-9 |
| 608307 | Result | 97025-1 |
| 608308 | Interpretation | 69047-9 |
| 608309 | Additional Information | 48767-8 |
| 608310 | Specimen | 31208-2 |
| 608311 | Source | 31208-2 |
| 608312 | Released By | 18771-6 |
| 608235 | Method | 85069-3 |
| 608222 | Tissue ID | 80398-1 |
| 606746 | Disclaimer | 62364-5 |
Reference Values
An interpretive report will be provided.
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Specimen Minimum Volume
See Specimen Required
mml-gastrointestinal-cancer, mml-skin-cancer, mml-neuro-oncology-oms, mml-pulmonary-cancer