Test Catalog

Test Id : BRAFD

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BRAF V600E/V600K Somatic Mutation Analysis, Tumor

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Overview

Test Catalog

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

BRAF V600 Somatic Mutation Analysis, Tumor

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

No

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.

6 to 12 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

FFPE tissue: Unused portions of FPPE blocks will be returned. Unused, unstained slides: 5 years; Stained slides: Indefinitely.

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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.

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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports

Test Update Resources

Change Type Effective Date
Test Changes - Specimen Information 2024-08-14