BRAF V600E Mutation Detection Other
Test Mnemonic
BRAFO
CPT Codes
- 81210 - QTY (1)
Aliases
- Hairy cell leukemia BRAF V600E Other (paraffin embedded tissue)
Performing Laboratory
Cleveland Clinic Laboratories
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| One | Clot | Formalin-fixed, paraffin-embedded block | Ambient | Ambient | Paraffin- embedded clot should be delivered to Anatomic Pathology for accessioning and cutting. |
| 10 mm square | Paraffin block, formalin fixed | Clean container | Ambient | Ambient | Paraffin- embedded tissue should be delivered to Anatomic Pathology for accessioning and cutting. |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | Paraffin-embedded tissue- indefinitely; Paraffin-embedded clot- indefinitely |
| Refrigerated | Paraffin-embedded tissue- unacceptable; Paraffin-embedded clot- unacceptable |
| Frozen | Paraffin-embedded tissue- unacceptable; Paraffin-embedded clot- unacceptable |
Days Performed
3 days per week
Turnaround Time
5 days
Methodology
| Name | Description |
|---|---|
| Droplet Digital Polymerase Chain Reaction (PCR) |
Special Info
May be reported with reduced sensitivity in cases of suboptimal amplification due to specimen type (with comment)
Clinical Info
This assay uses Droplet Digital PCR to detect the BRAF V600E mutation, which may be useful in hairy cell leukemia and in multiple other neoplasms including melanoma, colorectal carcinoma, papillary thyroid carcinoma, and Langerhans cell histiocytosis
Clinical Limitation
This test is designed to detect only the V600E variant in the BRAF gene. Other variants in BRAF will not be identified by this test. The lower limit of detection of this assay is approximately 0.1% variant allele fraction (vaf) for the BRAF V600E variant. The result cannot be used as a standalone basis for diagnosis of malignancy, and needs to be considered in the context of clinical and morphologic presentation.