Test Id : BRAFB
Cell-Free DNA BRAF V600, Blood
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.
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
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
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
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
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 |