JAK2 Exon 12, 13, 14 and 15 Mutation Analysis

CPT: 81403
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Test Details

Use

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.

Limitations

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).

Methodology

Reverse transcription polymerase chain reaction RT-PCR and Sanger sequencing

Specimen Requirements

Specimen

Whole blood or bone marrow

Volume

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

Minimum Volume

3 mL whole blood or 1 mL bone marrow

Container

Lavender-top (EDTA) tube, green-top (sodium heparin) tube or yellow-top (ACD) tube

Collection

At room temperature (18-26°C)

Storage Instructions

Refrigerate

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

References

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

LOINC® Map

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 489415 Indications 42349-1
115101 JAK2 Exons 12-15 489416 Specimen Type 31208-2
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
115101 JAK2 Exons 12-15 489414 JAK2 E12-E15 Mutation N/A

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf