JAK2V617F Mutation Analysis, Qualitative, With Reflex to CALR Mutation Analysis and MPL Mutation Analysis

CPT: 81270
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Test Details

Test Includes

This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis and MPL 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).

The calcium-binding endoplasmic reticulin chaperone protein, calreticulin (CALR) is somatically mutated in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60% to 88% of patients with JAK2-negative primary myelofibrosis. Only a minority of patients (approximately 8%) with myelodysplasia has mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia, or solid tumors. CALR mutations are not detected in polycythemia and appear to be mutually exclusive with JAK2 mutations and MPL mutations.

MPL (myeloproliferative leukemia virus oncogene homology) belongs to the hematopoietin superfamily and enables its ligand, thrombopoietin, to facilitate both global hematopoiesis and megakaryocyte growth and differentiation. MPL W515 mutations are present in patients with primary myelofibrosis (PMF) and essential thrombocythemia (ET) at a frequency of approximately 5% and 1%, respectively. The S505 mutation is detected in patients with hereditary thrombocythemia.


This assay has a sensitivity of approximately 5% for the detection of cells containing the JAK2 mutations and CALR mutations and 10% to 20% for MPL mutations in a background of nonmutant cells.


Allele-specific polymerase chain reaction (PCR); capillary electrophoresis; 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 the test request form.

Storage Instructions

Refrigerate. Ship specimen at room temperature. Specimen should arrive in the laboratory within 48 hours of collection. If specimen is to be stored prior to shipment, store at 2°C to 8°C. Indicate date and time of collection on the test request form.

Causes for Rejection

Sample greater than 72 hours old; clotted blood

Clinical Information

Special Instructions

Please direct any questions regarding this test to customer service at 800-345-4363.


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. 15781101
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 JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005 Sep 15; 106(6):2162-2168. 15920007
Kilpivaara O, Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: Discovery and science. Leukemia. 2008 Oct; 22(10):1813-1817. 18754026
Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013 Dec 19; 369(25):2379-2390. 24325356
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
Liu K, Martini M, Rocca B, et al. Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia. Haematologica. 2009 Oct; 94(10):1368-1374. 19608689
Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.N Engl J Med. 2013 Dec 19; 369(25):2391-2405. 24325359
Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: A study of 1182 patients. Blood. 2006 Nov 15; 108(10):3472-3476. 16868251
Tefferi A, Gilliland DG. The JAK2 V617F 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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