BRAF Gene Mutation Analysis

CPT: 81210; 88381
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Test Details

Use

BRAF is an important member of the mitogen-activated protein kinase (MAPK) pathway that influences cell proliferation. This test differentiates all V600 mutations of the BRAF oncogene frequently found in human cancers, such as melanoma, colorectal 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) type, but other V600 mutations have been reported.

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 US Food and Drug Administration (FDA).

Methodology

SNaPshot Multiplex PCR (primer extension-based method)

Specimen Requirements

Specimen

Formalin-fixed, paraffin-embedded (FFPE) tissue blocks or slides, thyroid fine needle aspirate (FNA), 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 RPMI or 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. Samples with >4mm² and ≥50% tumor content are preferred; FNA (with sufficient cells for DNA extraction); 3 mL blood, 1 mL bone marrow

Container

FFPE tissue block or slides, lavender-top (EDTA) tube, green-top (sodium heparin) tube, FNA in RPMI or CytoLyt container

Storage Instructions

Ship at room temperature. If whole blood, bone marrow, or FNA in RPMI specimens are to be stored prior to shipment at 2°C to 8°C. Store FFPE block or slides, FNA in CytoLyt container at room temperature.

Causes for Rejection

Tumor block containing no tumor; broken or stained slides; clotted or frozen whole blood or bone marrow

Clinical Information

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.

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481030 BRAF Gene Mutation Analysis 481031 Results: 58483-9
481030 BRAF Gene Mutation Analysis 481032 Indications: 42349-1
481030 BRAF Gene Mutation Analysis 481033 Specimen Location: N/A
481030 BRAF Gene Mutation Analysis 481034 Specimen Type: 31208-2
481030 BRAF Gene Mutation Analysis 481035 Block #: N/A
481030 BRAF Gene Mutation Analysis 481076 Nucleotide Change: 48004-6
481030 BRAF Gene Mutation Analysis 481079 Amino Acid Change: 48005-3
481030 BRAF Gene Mutation Analysis 481036 Background: 77202-0
481030 BRAF Gene Mutation Analysis 481065 Methodology: 49549-9
481030 BRAF Gene Mutation Analysis 481059 References: 75608-0
481030 BRAF Gene Mutation Analysis 481081 Director Review: 72486-4
481030 BRAF Gene Mutation Analysis 480903 Microdissection Performed 8100-0
481030 BRAF Gene Mutation Analysis 481181 Referring Physician 18781-5
481030 BRAF Gene Mutation Analysis 481182 Treating Physician N/A
481030 BRAF Gene Mutation Analysis 481183 Body Site 39111-0
481030 BRAF Gene Mutation Analysis 481168 Client Specimen ID N/A
481030 BRAF Gene Mutation Analysis 481172 Specimens Received N/A
481030 BRAF Gene Mutation Analysis 481173 Clinical Data 55752-0
481030 BRAF Gene Mutation Analysis 481175 Interpretation 51968-6
481030 BRAF Gene Mutation Analysis 481176 Analytical Results 53844-7
481030 BRAF Gene Mutation Analysis 481177 Comments 77202-0
481030 BRAF Gene Mutation Analysis 481178 Signed By 19139-5
481030 BRAF Gene Mutation Analysis 481179 Disclaimers N/A
481030 BRAF Gene Mutation Analysis 481180 PDF 51969-4

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf