JAK2 p.V617F Mutational Analysis
An activating point mutation in codon 617 of JAK2 (p.V617F) has been identified in three different chronic myeloproliferative disorders, including polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). This mutation is found in 50-85% of PV patients, 30-40% of ET patients and 30-60% of PMF patients. Detection of this mutation permits assessment of clonality in these common but previously difficult to diagnosis conditions. This assay can also be used to track levels of residual disease following treatment and select patients for JAK2 inhibitor therapy.
PCR-based pyrosequencing of DNA is performed to examine mutational status of codon 617. The level of mutated/unmutated PCR product are reported. This assay is also available on the Next Gen Sequencing panel for Hematological malignancies, interrogating Exon 14, codons 616-621.
Tumor clone must comprise at least 5% of the cells in the sample for accurate assessment. Levels are quantitative with approximately 5-10% variability.
- 10 ml peripheral blood in purple top tube (EDTA Vacutainer), sent on wet ice
- 2-5 ml of bone marrow aspirate, sent on wet ice
- Frozen tissue samples
- Formalin-fixed, paraffin embedded tissue blocks
Please provide a copy of the corresponding pathology report.
Additional charges may apply for tissue extraction.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.