JAK2 Exon 12, 13, 14 and 15 Mutation Analysis

CPT: 81403
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Test Details


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 neoplasma (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 patient contain other non-V617F mutations within exons 12 to 15.


In vitro studies indicate that this analysis has a mutation detection sensitivity of 15%. Mutations occurring outside of the analyzed region of the JAK2 gene will not be detected by this assay.

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).


Reverse transcription polymerase chain reaction RT-PCR and 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, green-top (sodium heparin) tube or yellow-top (ACD) tube


At room temperature (18-26°C)

Storage Instructions


Causes for Rejection

Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed or otherwise visibly degraded; contamination by another specimen; specimen containing foreign material

Clinical Information


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
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


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
115101 JAK2 Exons 12-15 115328 JAK2 Exons 12-15 Mut Det PCR 48726-4
115101 JAK2 Exons 12-15 115347 JAK2 Exons 12-15 Mutation Anal N/A
115101 JAK2 Exons 12-15 489391 Nucleotide Change 48004-6
115101 JAK2 Exons 12-15 489392 Amino Acid Change 48005-3
115101 JAK2 Exons 12-15 489393 Background 77202-0
115101 JAK2 Exons 12-15 489394 Method 49549-9
115101 JAK2 Exons 12-15 489412 References 75608-0
115101 JAK2 Exons 12-15 489413 Director Review 72486-4

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