JAK2 p.V617F Quantitative Variant Analysis by Real-Time PCR
JAK2 (Janus kinase 2) gene analysis, JAK2 Mutation (p.V617F) Detection
Molecular Diagnostics Laboratory
Clinical Indication and Relevance
The assay is useful to confirm the diagnosis of myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and primary myelofibrosis. The assay can also be used to monitor minimal residual disease in follow-up samples.
Genomic DNA is isolated and amplified by allelic discrimination/quantitative real-time PCR targeting the JAK2 gene. Results are reported as percentage of JAK2 V617F mutant allele relative to the amount of wild type allele. The assay is sensitive to 1% variant allele fraction.
The assay sensitivity is 1% mutant DNA.
Minimum Specimen Requirements
- Peripheral blood (PB): 3-5 mL, in purple top (sodium EDTA) tube; yellow top (ACD) tube acceptable.
- Bone marrow (BM): 1-3 mL, drawn into a syringe containing anticoagulant and then delivered in purple top tube.
Transport Deliver immediately at 2-8°C (wet ice or cold packs). Do not freeze.
Stability Ambient – 1 hour; refrigerated – 48 hours.
Unacceptable Samples Serum or plasma; frozen PB or BM; clotted blood; severely hemolyzed samples.
Five to seven working daysView Requisition Sheet