Quantitative detection of the V617F mutation, which is commonly found in myeloproliferative neoplasms (MPN). DNA is isolated and subjected to allele-specific polymerase chain reaction (PCR) amplification. Test report includes a bar graph to trend the mutational load.
The JAK2 V617F mutation is present in approximately 90% of polycythemia vera (PV) cases and approximately half of primary myelofibrosis (PMF) or essential thrombocythemia (ET). Quantitation of V617F is useful for monitoring MPN patients’ response to clinical treatment as V617F mutational load correlates with disease course, therefore can be used as a predictive marker.
- Bone Marrow Aspirate: 2-3 mL in EDTA tube
- Peripheral Blood: 3-5 mL in EDTA tube
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.