Test Catalog

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 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)

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.

 

See Lynch Syndrome Testing Algorithm in Special Instructions.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Digital Droplet 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

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

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.

 

See Lynch Syndrome Testing Algorithm in Special Instructions.

Specimen Type
Describes the specimen type validated for testing

Varies

Necessary Information

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

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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 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)

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.

 

See Lynch Syndrome Testing Algorithm in Special Instructions.

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 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.

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

An interpretive 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 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.

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 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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Digital droplet polymerase chain reaction (PCR)-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.

Monday through Friday

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.

5 to 7 days

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

Unused slides: 5 years;. Extracted DNA: 3 months. Unused portions of blocks will be returned.

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 Regional Manager. 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. This test 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

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