JAK2V617F Mutation Analysis, Quantitative

Overview:

The quantitative real-time PCR assay detects V617F mutation (c.1849 G>T) observed in approximately 95% polycythemia vera (pv), 55% essential thrombocythemia (ET), and 55% primary myelofibrosis (PMF). It is also infrequently present (3% to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken based solely on these results.

This assay detects only the JAK2V617F point mutation. Other mutations that may occur in the JAK2 gene will not be detected. In vitro studies have indicated that this assay has an analytical sensitivity of 1%. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005 Mar 19-25; 365(9464):1054-1061. Erratum: Lancet. 2005 Jul 9-15;366(9480):122. PubMed 15781101

James C, Ugo V, Le Couédic JP. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature. 2005 Apr 28; 434(7037):1144-1148. PubMed 15793561

Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005 Apr 28; 352(17):1779-1790. PubMed 15858187