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

CPT: 81270
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Test Details


  • Janus Kinase 2 V617F Mutation Detection Reflex JAK2 Exon 12-15 Mutation Detection


This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to JAK2 exon 12 to 15 mutation analysis when the JAK2V617F mutation is negative. The JAK2V617F (exon 14) mutation analysis can be used in conjunction with bone marrow histology and cytogenetic analysis to assist in the diagnosis of myeloproliferative neoplasms (MPN). The JAK2V617F mutation is found in almost all patients with polycythemia vera (PV) and in nearly one-half of those with idiopathic myelofibrosis (IMF) and with essential thrombocythemia (ET).

A small percentage (~3.3%) of JAK2 mutation positive patients contain other non-V617F mutations within exons 12 to 15.


The JAK2V617F assay has a sensitivity of 1% for the detection of cells containing the JAK2V617F mutation within a background of nonmutant cells. The JAK2 exon 12 to 15 assay has a mutation detection sensitivity of 15%.


Taqman® real time PCR amplification/detection; 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. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on test request form.

Storage Instructions

Maintain specimen 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; specimens containing suspicious foreign material

Clinical Information

Special Instructions

Please 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):34-41.26361084
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
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
James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005 Apr 28;434(7037):1144-1148.15793561
Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2V617F mutation in chronic myeloproliferative disorders. Blood. 2005 Sep 15;106(6):2162-2168.15920007
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
Tefferi A, Gilliland DG. The JAK2V617F tyrosine kinase mutation in myeloproliferative disorders: status report and immediate implications for disease classification and diagnosis. Mayo Clin Proc. 2005 Jul;80(7):947-958.16007902

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