JAK2V617F Mutation Analysis, Quantitative
Use
The quantitative real-time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET), and 55% primary myelofibrosis (PMF). It is also infrequently present (3% to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results.
Special Instructions
Not provided.
Limitations
This assay detects only the JAK2V617F point mutation. Other mutations that may occur in the JAK2 gene will not be detected. In vitro studies have indicated an analytical sensitivity of 1%. This test was developed and its performance characteristics determined by Labcorp, but it has not been cleared or approved by the FDA.
Methodology
PCR-based (qPCR)
Biomarkers
No genes
Gene
LOINC Codes
- 43399-5 - JAK2 p.V617F Bld/T Ql
- 53761-3 - JAK2 p.V617F mut/Nor Bld/T
- 77202-0 - Laboratory comment Report
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
Result Turnaround Time
5-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 to 5 mL
Minimum Volume
3 mL
Container
Lavender-top (EDTA) tube, green-top (sodium heparin) tube, tan-top (K2-EDTA) tube or pink-top (K2-EDTA) tube
Collection Instructions
Submit at room temperature. Specimen should arrive at the testing laboratory within 48 hours of collection.
Storage Instructions
Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.
Causes for Rejection
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.
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