| Test Name: |
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BRAF Mutation Analysis, Tissue
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| Test Code(s): |
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BRAF / Not orderable in Health Link
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| CPT Code(s): |
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81210
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| Methodology: |
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Real-Time PCR followed by Melting Point Analysis
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| Clinical Significance: |
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Mutations in the BRAF gene have been reported in many human cancers, including malignant melanoma (27-70%), colorectal cancer (5-22%), ovarian cancer (30%) and papillary thyroid cancer (30-70%). This assay detects the predominant BRAF mutation, a single transversion in exon 15 (T1799A) resulting in an amino-acid substitution of glutamate for valine at residue 600 (Val600Glu). Consideration of BRAF status should be given when determining appropriate therapy.
Specific BRAF kinase inhibitors, such as Zelboraf, have recently gained FDA approval for BRAF V600E positive metastatic melanoma. Further more, the BRAF V600E mutation is a known negative predictor of Cetuximab therapy.
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| Days Performed: |
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Once a week.
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| Turnaround Time: |
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Routine: 10 days.
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Specimen Requirements
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| Specimen: |
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Formalin-fixed, paraffin embedded tissue.
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| Sample Analyzed: |
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Tissue
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| Specimen Processing: |
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FFPE tissue should be cut in 10 or 20 micron sections (minimum 5 sections) and placed into a 1.5 mL tube. Unstained sections on slides are also acceptable (minimum 5 slides, 10 micron each.)
If an add-on order is needed, please contact UWHC Surgical Pathology at (608)263-8443. A Surgical Pathology Tissue Examination Request form will need to be completed and faxed to (608)262-7174.
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| Specimen Transport: |
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Transport at room temperature or with a cold pack. Avoid excessive heat.
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| Outreach Specimen Transport: |
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Transport with a cold pack. Avoid excessive heat.
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| Unacceptable Criteria: |
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Specimens processed in alternative fixatives.
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| Stability: |
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Ambient: Indefinitely.
Refrigerated: Indefinitely.
Frozen: Unacceptable.
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Interpretation
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Expected result: Not detected. A written interpretive report is provided by the laboratory.
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| Test Limitations: |
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A “Not Detected” result does not preclude the presence of V600E mutation in BRAF since analytical detection depends on numerous factors such as: the heterogenous nature of the tissue sample and ~5% analytical sensitivity of this assay, sample integrity and the absence of PCR inhibitors. Additionally, other dinucleotide mutations affecting codon 600 of BRAF have been observed and are not directly tested for with this assay. Moreover, please note this assay does not rule out the presence of other mutations in the BRAF gene or other components of the EGFR signaling cascade.
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| Additional Information: |
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A “Detected” result indicates the presence of a V600E BRAF mutation. A “Not Detected” result does not rule out the presence of a BRAF mutation. Inadequate specimen collection, processing and storage may invalidate test results. Test results should not be used as the only criterion to form a clinical conclusion but should be interpreted in the context of all clinical findings, tumor sampling and laboratory data.
The performance characteristics of this test were validated by UWHC Clinical Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. The UWHC Clinical Laboratories is authorized under Clinical Laboratory Improvement Amendments (CLIA) to perform high-complexity testing.
A professional fee is associated with this test.
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