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JAK2 p.V617F Mutational Analysis

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 forJAK2 inhibitor therapy.


This test is performed by PCR-based Pyrosequencing of DNA to examine the mutation status of codon 617 in exon 14 of JAK2.

Test Parameters:  

This assay will detect the V617F mutation present in exon 14 of JAK2. The sensitivity of the Pyrosequencing assay is 5-10% of variant sequence in the background of wild-type sequence.

Turnaround Time:

7-10 days

Sample Requirements:
10 mL peripheral blood, 2-5mL bone marrow aspirate, 5g purified DNA, or 4-10 unstained tissue sections on glass slides along with 1 H&E-stained section.
Please provide a copy of the corresponding pathology report.

CPT Codes:


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.

© 2015 The University of Texas MD Anderson Cancer Center