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BRAF Gene Mutation Analysis

Test Number 570220
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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