BRAF Mutation Analysis (V600), Melanoma
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Identification of melanoma tumors that may respond to BRAF-targeted therapies
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
Testing Algorithm Delineates situation(s) 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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Polymerase Chain Reaction (PCR) Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
BRAF Mutation AnalysisV600 Melanoma
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Pathology report must accompany specimen in order for testing to be performed.
Specimen Type: Tissue block or slide
1. Submit formalin-fixed, paraffin-embedded tissue block (preferred) or 1 slide stained with hematoxylin-and-eosin and 5 unstained, non-backed slides (5-micron thick sections) of the tumor tissue.
2. Sections should contain both tumor and normal tissue.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or 1 slide stained with hematoxylin-and-eosin and 5 unstained, nonbaked slides (5-microns thick sections) of the tumor tissue.
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Assessment for BRAF V600 mutations has clinical utility in that it is a predictor of response to antimutant BRAF therapy. BRAF 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. Targeted therapies directed to components of this pathway have demonstrated some success with increases both in progression-free and overall survival in patients with certain tumors. Effectiveness of these therapies, however, depends in part on the mutation status of the pathway components.
Malignant melanoma, one of the most aggressive forms of skin cancer, has a high frequency of BRAF mutations. Approximately 44% to 70% of melanoma cases have a BRAF mutation, and of those, approximately 50% to 90% are the V600E mutation. Current data suggest that the efficacy of BRAF-targeted therapies in melanoma is confined to patients with tumors with activating BRAF mutations, such as V600E, which leads to increased activation of the kinase pathway. While this test was designed to evaluate for the V600E alteration, cross-reactivity with other alterations at the V600 codon have been described.
At this time, this test is approved specifically for melanoma tumors. Please refer to BRAF/87980 BRAF Mutation Analysis (V600E), Tumor for BRAF testing in nonmelanoma tumors.
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 interpretative report will be provided.
An interpretative report will be provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Not all patients that have BRAF mutations respond to BRAF-targeted therapies.
Rare polymorphisms 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.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Anderson S, Bloom KJ, Vallera DU, et al: Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed paraffin-embedded tissue specimens of malignant melanoma. Arch Pathol Lab Med 2012 Feb;136:1-7
2. 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
3. Package insert: Cobas 4800 V600 Mutation Test. Roche Molecular Systems, Inc., Branchburg, NJ; February 2011
4. Dhomen N, Marais R: BRAF signaling and targeted therapies in melanoma. Hematol Oncol Clin North Am 2009 Jun;23(3):529-545, ix
5. Flaherty KT, Puzanov I, Kim KB, et al: Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 2010 Aug;363(9):809-819
Method Description Describes how the test is performed and provides a method-specific reference
A PCR-based assay that targets the BRAF V600E mutation with BRAF wild-type and V600E target specific fluorescent dye-labeled TaqMan probes.(Package insert: Cobas 4800 V600 Mutation Test. Roche Molecular Systems, Inc., Branchburg, NJ; February 2011)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; Varies
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Unused portions of blocks will be returned. Slides are stored indefinitely.
Performing Laboratory Location The location of the laboratory that performs the test
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's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test has been cleared or approved by the U.S. Food and Drug Administration and is used per manufacturer's instructions. Performance characteristics were verified by Mayo Clinic in a manner consistent with CLIA requirements.
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 Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81210-BRAF (v-raf murine sarcoma viral oncogene humolog B1), Melanoma FDA approved Cobas assay
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|34661||Specimen ID||In Process|
|34663||Order Date||In Process|
|34664||Reason For Referral||In Process|
|34669||Reviewed By:||In Process|
|34670||Release Date||In Process|