Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers than 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)
Aid 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)
Test Id | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
When this test is ordered, slide review will always be performed at an additional charge.
See Lynch Syndrome Testing Algorithm in Special Instructions.
Digital Droplet Polymerase Chain Reaction (ddPCR)
Anaplastic thyroid carcinoma
BRAF
BRAF mutation
BRAFD
Brain cancer
Circulating tumor cells
Circulating tumor DNA
CNS tumor
Colon cancer
Colorectal cancer
Craniopharyngioma
Erdheim-Chester disease
Glioma
Hairy Cell leukemia
Histiocytic lesion
Liquid biopsy
Lung cancer
Melanoma
Papillary thyroid carcinoma
V600E
V600K
When this test is ordered, slide review will always be performed at an additional charge.
See Lynch Syndrome Testing Algorithm in Special Instructions.
Varies
Pathology report (final or preliminary) must accompany specimen in order for testing to be performed. At minimum, it should contain the following information:
1. Patient name
2. Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)
3. Tissue collection date
4. Source of the tissue
Preferred:
Specimen Type: Tissue
Container/Tube: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
Acceptable:
Specimen Type: Tissue
Container/Tube: Slides
Specimen Volume: 1 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.
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded Bone marrow in EDTA | Reject |
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Refrigerated |
Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers than 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)
Aid 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)
When this test is ordered, slide review will always be performed at an additional charge.
See Lynch Syndrome Testing Algorithm in Special Instructions.
This test assesses for somatic (tumor-specific) BRAF V600E and V600K alterations. 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 alterations occur frequently in many different tumor types. BRAF variant analysis aids in the diagnosis of cancer types including anaplastic and papillary thyroid carcinoma, hairy cell leukemia, and papillary craniopharyngioma.
BRAF V600E and V600K alterations are associated with response or resistance to specific targeted therapies in cancers such as melanoma, colorectal cancer, and lung 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 (FDA) 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 variant analysis can provide helpful diagnostic information in the context of evaluation for Lynch syndrome. See Lynch Syndrome Testing Algorithm in Special Instructions.
An interpretive report will be provided.
An interpretive report will be provided.
Not all tumors that have BRAF alterations respond to BRAF-targeted therapies.
Rare genetic alterations exist that could lead to false-negative or false-positive results.
Test results should be interpreted in context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for possible interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.
Colon cancer is relatively common and it is possible for a sporadic colon cancer to occur in a Lynch syndrome family. Therefore, evaluation of other family members should still be considered in cases with MLH1 promoter hypermethylation and absence of the BRAF V600E alteration if there is high clinical suspicion of Lynch syndrome.
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 Jun;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 Aug 20;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
Digital droplet polymerase chain reaction (PCR)-based assay to detect the presence of the BRAF V600E and BRAF V600K alterations.(Unpublished Mayo method)
Monday through Friday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
81210
88381-Microdissection, manual
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
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
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 |