JAK2 p.V617F Quantitative Variant Analysis by Real-Time PCR

CPT Code(s)

81270, G0452

Synonym(s)

JAK2 (Janus kinase 2) gene analysis, JAK2 Mutation (p.V617F) Detection

Performed

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.

Methodology

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.

Critical Values

The assay sensitivity is 1% mutant DNA.

Minimum Specimen Requirements

Collect

• 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.

Turnaround time

Five to seven working days

View Requisition Sheet