Test Id : BRAFD
BRAF V600E/V600K Somatic Mutation Analysis, Tumor
Useful For
Suggests clinical disorders or settings where the test may be helpful
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.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test evaluates tumor DNA for the presence of BRAF V600E or V600K mutations in patients with cancer and can be used to determine if these patients are candidates for targeted therapies.
Additional Tests
Lists tests that are always performed, at an additional charge, with the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, slide review will always be performed at an additional charge.
For more information see Lynch Syndrome Testing Algorithm.
Method Name
A short description of the method used to perform the test
Droplet Digital Polymerase Chain Reaction (ddPCR)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Anaplastic thyroid carcinoma
BRAF
BRAF mutation
BRAFD
Brain cancer
CNS tumor
Colon cancer
Colorectal cancer
Craniopharyngioma
Erdheim-Chester disease
Glioma
Hairy Cell leukemia
Histiocytic lesion
Lung cancer
Melanoma
Papillary thyroid carcinoma
V600E
V600K
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, slide review will always be performed at an additional charge.
For more information see Lynch Syndrome Testing Algorithm.
Specimen Type
Describes the specimen type validated for testing
Varies
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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
See Specimen Required
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded Bone marrow in EDTA | Reject |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
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.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test evaluates tumor DNA for the presence of BRAF V600E or V600K mutations in patients with cancer and can be used to determine if these patients are candidates for targeted therapies.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, slide review will always be performed at an additional charge.
For more information see Lynch Syndrome Testing Algorithm.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Not all tumors that have BRAF mutations respond to BRAF-targeted therapies.
Rare genetic alterations (ie, polymorphisms) exist that could lead to false-negative or false-positive results.
This assay was designed to detect V600E and V600K alterations. The sensitivity for rarer V600 alterations has not been established.
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.
Reliable results are dependent on adequate specimen collection and processing. This test has been validated on formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause polymerase chain reaction failure.
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 mutation if there is high clinical suspicion of Lynch syndrome.
This test is not validated for serial monitoring of patients with cancer.
This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
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
Method Description
Describes how the test is performed and provides a method-specific reference
Droplet digital polymerase chain reaction-based assay to detect the presence of the BRAF V600E and BRAF V600K alterations.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Varies
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81210
88381-Microdissection, manual
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| 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 |