JAK2V617F Mutation Analysis, Quantitative, With Reflex to JAK2 Exon 12-15 Mutation Analysis

CPT: 81270
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Test Details


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) and will reflex to the JAK2 exon 12 to 15 mutation analysis when the JAK2V617F is negative. It is also infrequently present (3 to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia, and other atypical chronic myeloid disorders. A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exon 12 to 15. The results should be interpreted in the context of all clinical and laboratory findings. No therapeutic action should be taken solely on these results.


This assay has an analytical sensitivity of 1% for the detection of cells containing the JAK2V617F mutation and 15% for JAK2 exon 12 to 15 in a background of non-mutant cells.

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).


Sanger sequencing

Specimen Requirements


Whole blood or bone marrow


3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

3 mL whole blood or 1 mL bone marrow


Lavender-top (EDTA) tube or green-top (sodium heparin) tube


Submit at room temperature. Specimen should arrive at the testing laboratory within 48 hours of collection. Indicate the date and time of collection on test request form.

Storage Instructions

Ship at room temperature. If specimen is to be stored prior to shipment, store at 2°C to 8°C.

Causes for Rejection

Sample more than 72 hours old; frozen whole blood, serum or bone marrow; leaking tube; clotted blood or bone marrow; grossly hemolyzed specimen or otherwise visibly degraded or unsuitable; and specimens containing suspicious foreign material

Clinical Information

Special Instructions

Please provide indications for JAK2 testing and specimen type. Direct any questions regarding this test to customer service at 800-345-4363.


Alghasham N, Alnouri Y, Abalkhail H, Khalil S. Detection of mutations in JAK2 exons 12-15 by Sanger sequencing. Int J Lab Hematol. 2016 Feb;38(1):34-41.
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):1054-1061.15781101
Erratum: Lancet. 2005 Jul 9-15;366(9480):122.
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):1144-1148.15793561
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):1779-1790.15858187
Ma W, Kantarjian H, Zhang X, et al. Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias. J Mol Diagn. 2009 Jan;11(1):49-53.19074595

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