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BRAF Gene Mutation Analysis

Test Number 570220
Test number copied
CPT

81210; 88381

Test Details

Methodology

SNaPshot Multiplex PCR (primer extension-based method)

Result Turnaround Time

5 - 7 days

Use

BRAF is an important member of the mitogen-activated protein kinase (MAPK) pathway that influences cell proliferation. This test will detect all V600 mutations of the BRAF oncogene frequently found in human cancers, such as melanoma, colorectal cancer, gastric cancer, lung cancer, ovarian cancer, thyroid cancer and hairy cell leukemia, allowing the determination of drug response, aiding the diagnosis and providing prognosis information. More than 90% of mutations are the V600E (c1799T>A) mutation, but other V600 mutations have been reported.

This test can distinguish the following BRAF V600 mutations: V600E, V600E2, V600K, V600D, V600R, V600A, V600G, V600M, V600L.

Special Instructions

Please provide a copy of the pathology report. Direct any questions regarding this test to customer service at 800-345-4363. BRAF testing will be delayed if the pathology report is not received.

Specimen Requirements

Limitations

This assay is able to detect 5% mutation in a background of wild-type DNA.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

References

Benson AB 3rd, Bekaii-Saab T, Chan E, et al. Rectal cancer. Natl Compr Canc Netw. 2012 Dec 1;10(12):1528-1564. 23221790
Benson AB 3rd, Venook AP, Bekaii-Saab T, et al. Colon cancer, version 3.2014. J Natl Compr Canc Netw. 2014 Jul;12(7):1028-1059. 24994923
Ettinger DS, Wood DE, Akerley W, et al. Non-small cell lung cancer, version 1. J Natl Compr Canc Netw. 2014 Dec;12(12):1738-1761. 25505215
Kudchadkar R, Gibney G, Sondak VK. Integrating molecular biomarkers into current clinical management in melanoma. Methods Mol Biol. 2014;1102:27-42. 24258972
Misale S, Di Nicolantonio F, Sartore-Bianchi A, Siena S, Bardelli A. Resistance to anti-EGFR therapy in colorectal cancer: From heterogeneity to convergent evolution to convergent evolution. Cancer Discov. 2014 Nov;4(11)1269-1280. 25293556
NCCN Clinical Practice Guidelines in Oncology: Hairy Cell Leukemia v4.2014.
Ohashi K, Sequist LV, Arcila ME, et al. Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1. Proc Natl Acad Sci USA. 2012 Jul 31;109(31):E2127-E2133. 22773810
Pakneshan S, Salajegheh A, Smith RA, Lam AK. Clinicopathological relevance of BRAF mutations in human cancer. Pathology. 2013 Jun;45(4):346-356. 23594689
Sharma SG, Gulley ML. BRAF mutation testing in colorectal cancer. Arch Pathol Lab Med. 2010 Aug;134(8):1225-1228. 20670148
Tuttle RM, Haddad RI, Ball DW, et al. Thyroid carcinoma, version 2. 2014. J Natl Compr Canc Netw. 2014 Dec;12(12);1671-1680. 25505208

Specimen

Solid tumor: formalin-fixed, paraffin-embedded (FFPE) tissue blocks or slides; thyroid fine needle aspirate (FNA) 

Leukemia: whole blood or bone marrow

Volume

FFPE tissue block or four unstained slides and one matching H&E-stained slide at 5 μM; 5 to 10 mL FNA in CytoLyt container; 3 to 5 mL whole blood, 1 to 2 mL bone marrow

Minimum Volume

Two unstained slides and one matching H&E-stained slide at 5 μM (sample with >4mm2 and greater than or equal to 50% tumor content are preferred); 5 mL FNA; 3 mL blood, 1 mL bone marrow

Container

FFPE tissue block or slides, lavender-top (EDTA) tube, green-top (sodium heparin) tube, yellow-top (ACD-A) tube, FNA CytoLyt container, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube

Storage Instructions

Maintain specimen at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Store FFPE block or slides and FNA in CytoLyt container at room temperature.

Causes for Rejection

Tumor block containing no tumor; broken or stained slides; specimen does not meet collection criteria; frozen whole blood, marrow, or cell pellet; leaking tube; clotted blood or marrow; grossly hemolyzed specimen or otherwise visibly degraded; contamination by another specimen; specimens containing suspicious foreign material

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
570220 BRAF Mutation Analysis 570221 Referring Physician 18781-5
570220 BRAF Mutation Analysis 570222 Treating Physician 18781-5
570220 BRAF Mutation Analysis 570223 Body Site 39111-0
570220 BRAF Mutation Analysis 570224 Client Specimen ID N/A
570220 BRAF Mutation Analysis 570225 Specimen(s) Received 31208-2
570220 BRAF Mutation Analysis 570226 Clinical Data 55752-0
570220 BRAF Mutation Analysis 570227 Results: 50397-9
570220 BRAF Mutation Analysis 570228 Interpretation 62365-2
570220 BRAF Mutation Analysis 570229 Analytical Results 21702-6
570220 BRAF Mutation Analysis 570230 Comments 77202-0
570220 BRAF Mutation Analysis 570231 Methodology: 49549-9
570220 BRAF Mutation Analysis 570232 References: 75608-0
570220 BRAF Mutation Analysis 570233 Electronically Signed by 19139-5
570220 BRAF Mutation Analysis 570234 Disclaimer N/A
570220 BRAF Mutation Analysis 570235 PDF 11502-2
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570221
Result Code NameReferring Physician
UofM
Result LOINC18781-5
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570222
Result Code NameTreating Physician
UofM
Result LOINC18781-5
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570223
Result Code NameBody Site
UofM
Result LOINC39111-0
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570224
Result Code NameClient Specimen ID
UofM
Result LOINCN/A
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570225
Result Code NameSpecimen(s) Received
UofM
Result LOINC31208-2
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570226
Result Code NameClinical Data
UofM
Result LOINC55752-0
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570227
Result Code NameResults:
UofM
Result LOINC50397-9
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570228
Result Code NameInterpretation
UofM
Result LOINC62365-2
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570229
Result Code NameAnalytical Results
UofM
Result LOINC21702-6
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570230
Result Code NameComments
UofM
Result LOINC77202-0
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570231
Result Code NameMethodology:
UofM
Result LOINC49549-9
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570232
Result Code NameReferences:
UofM
Result LOINC75608-0
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570233
Result Code NameElectronically Signed by
UofM
Result LOINC19139-5
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570234
Result Code NameDisclaimer
UofM
Result LOINCN/A
Order Code570220
Order Code NameBRAF Mutation Analysis
Order Loinc
Result Code570235
Result Code NamePDF
UofM
Result LOINC11502-2
Reflex Table for Results:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 057220 BRAF Mutation Analysis (B) 000000 Results Pending
Reflex 1
Order Code057220
Order NameBRAF Mutation Analysis (B)
Result Code000000
Result NameResults
UofM
Result LOINCPending
Reflex Table for Results:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 057220 BRAF Mutation Analysis (B) 000000 Results Pending
Reflex 1
Order Code057220
Order NameBRAF Mutation Analysis (B)
Result Code000000
Result NameResults
UofM
Result LOINCPending
Reflex Table for Results:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 057220 BRAF Mutation Analysis (B) 000000 Results Pending
Reflex 1
Order Code057220
Order NameBRAF Mutation Analysis (B)
Result Code000000
Result NameResults
UofM
Result LOINCPending
Reflex Table for Results:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 057220 BRAF Mutation Analysis (B) 000000 Results Pending
Reflex 1
Order Code057220
Order NameBRAF Mutation Analysis (B)
Result Code000000
Result NameResults
UofM
Result LOINCPending
Reflex Table for Results:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 057220 BRAF Mutation Analysis (B) 000000 Results Pending
Reflex 1
Order Code057220
Order NameBRAF Mutation Analysis (B)
Result Code000000
Result NameResults
UofM
Result LOINCPending
Reflex Table for Results:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 057220 BRAF Mutation Analysis (B) 000000 PDF 11526-1
Reflex 1
Order Code057220
Order NameBRAF Mutation Analysis (B)
Result Code000000
Result NamePDF
UofM
Result LOINC11526-1