Test Catalog

Test Id : BRAFB

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Cell-Free DNA BRAF V600, Blood

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Overview

Test Catalog

Useful For
Suggests clinical disorders or settings where the test may be helpful

An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations

 

Identification of patients with cancer who are most likely to benefit from targeted therapies

 

This test is not intended for serial monitoring of patients with cancer or 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 cell-free DNA (cfDNA) in the peripheral blood for the presence of BRAF V600E or V600K alterations in patients with cancer and can be used to determine if these patients are candidates for targeted therapies.

Highlights

This test evaluates peripheral blood for BRAF alterations in cell-free DNA.

 

Detection of BRAF alterations in melanoma patients can be used as an alternative for BRAF analysis of tissue.

 

Current data suggests that the efficacy of BRAF-targeted therapy and anti-MEK therapy in melanoma is limited to patients whose tumors harbor a V600E or V600K alteration.

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

cfDNA BRAF V600 Test, Blood

Aliases
Lists additional common names for a test, as an aid in searching

Melanoma

Cell free DNA

cfDNA

cell-free DNA

circulating tumor DNA

liquid biopsy

BRAF

V600E

V600K

Circulating tumor cells

BRAFB

Specimen Type
Describes the specimen type validated for testing

Whole blood

Ordering Guidance

This test is not a prenatal screening test.

Shipping Instructions

1. Samples should be transported at ambient temperature or refrigerated (4 degrees C)

2. Samples are viable for 7 days in the Streck Black/Tan Top Tube Kit (T715)

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

Supplies: Streck Black/Tan Top Tube Kit (T715)

Container/Tube: Streck Cell-Free DNA blood collection kit

Specimen Volume: Two 10-mL Streck Cell-Free DNA blood collection tubes

Additional Information: Only blood collected in Streck Cell-Free DNA tubes will be accepted for analysis. Whole blood will be processed to produce platelet-poor plasma before cfDNA isolation.

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.

One 10 mL Streck cell-free DNA blood collection tube

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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
Whole blood Ambient (preferred) 7 days
Refrigerated 7 days

Useful For
Suggests clinical disorders or settings where the test may be helpful

An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations

 

Identification of patients with cancer who are most likely to benefit from targeted therapies

 

This test is not intended for serial monitoring of patients with cancer or 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 cell-free DNA (cfDNA) in the peripheral blood for the presence of BRAF V600E or V600K alterations in patients with cancer and can be used to determine if these patients are candidates for targeted therapies.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

This test uses DNA extracted from the peripheral blood to evaluate for the presence of 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 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 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.

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

Patients with a negative test result may still harbor a V600E or V600K alteration. Variant testing of a tissue specimen for BRAF alterations should be considered for patients with a negative result with this test.

 

The limit of detection of this assay for the detection of BRAF V600E and V600K alterations is influenced by the amount of cell-free DNA (cfDNA) in the blood. This is a biological variable that cannot be controlled.

 

This assay was designed to detect V600E and V600K alterations. The sensitivity for rarer V600 alterations has not been established.

 

This test has not been clinically validated for use as a tool to monitor response to therapy or for early detection of tumors.

 

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.

Supportive Data

This test has been evaluated by our laboratory as an alternative to assessing paraffin embedded tumor specimens for BRAF alterations in patients with advanced melanoma. Those studies revealed that this assay has a high positive predictive value (100% in our study) for the presence of a BRAF V600 alteration in a patient's tumor and high concordance between the specific alteration type observed in the patient's plasma and tumor.

 

While the positive predictive value of this assay was very high, the negative predictive value of the assay in this study (using BRAF tissue result as the gold standard) was only 71%.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Sanmamed MJ, Fernandez-Landazuri S, Rodriguez C, et al: Quantitative cell-free circulating BRAFV600E mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors. Clin Chem. 2015;61(1):297-304

2. Schwarzenbach H, Hoon DS, Pantel K: Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011 Jun;11(6):426-437

3. Johnson DB, Sosman JA: Update on the targeted therapy of melanoma. Curr Treat Options Oncol. 2013 Jun 14;(2):280-292

4. McArthur GA, Chapman PB, Robert C, et al: Safety and efficacy of vemurafenib in BRAF (V600E) and BRAF (V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomized, open-label study. Lancet Oncol. 2014 Mar;15(3):323-332

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

Blood samples are collected in Streck Cell-Free DNA blood collection tubes. Cell-free DNA (cfDNA) is isolated from double-centrifuged plasma and assessed for the presence of the BRAF V600E and BRAF V600K alterations using digital droplet polymerase chain reaction (ddPCR).(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.

5 to 10 days

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

Whole Blood: 2 weeks (if available); Extracted DNA: 3 months

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

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
BRAFB cfDNA BRAF V600 Test, Blood 93690-6
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.
48044 Result Summary 50397-9
48045 Result 93690-6
48046 Interpretation 69047-9
48047 Additional Information 48767-8
48048 Specimen 31208-2
48049 Source 31208-2
48050 Released By 18771-6
606201 Method 85069-3
606202 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