JAK2 V617F Mutational Analysis by Quantitative Droplet Digital PCR
An activating point mutation in codon 617 of JAK2 V617F has been identified in three different chronic myeloproliferative disorders/neoplasms, 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.
Results are reported as POSITIVE for p. JAK2 V617F mutation or POSITIVE for p. JAK2 V617F mutation. Quantitative results are reported as percentage of JAK2 V617F mutation relative to total JAK2 (Mutant Allele Percentage).
This test is performed by quantitative droplet digital PCR (ddPCR) to examine the mutation status of codon 617 in exon 14 of JAK2.
This assay will detect the V617F mutation present in exon 14 of JAK2. The sensitivity of the assay is 0.1% of variant sequence in the background of wild-type sequence.
1-2 mL peripheral blood and/or bone marrow aspirate. Please provide a copy of the corresponding pathology report.
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