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

CPT: 81270
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Test Details

Synonyms

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

Use

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.

Limitations

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%.

Methodology

Taqman® real time PCR amplification/detection; 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 or green-top (sodium heparin) tube

Collection

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.

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
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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489420 JAK2 V617F Qual, Rfx E12-15 489201 JAK2 V617F mutation detection 43399-5
489420 JAK2 V617F Qual, Rfx E12-15 489347 Background: 77202-0
489420 JAK2 V617F Qual, Rfx E12-15 489204 Director Review: 72486-4
489420 JAK2 V617F Qual, Rfx E12-15 489348 Reflex: N/A
489420 JAK2 V617F Qual, Rfx E12-15 489355 Extraction N/A
489420 JAK2 V617F Qual, Rfx E12-15 489457 JAK2 Mutation Analysis, Qual N/A
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 115328 JAK2 Exons 12-15 Mut Det PCR 48726-4
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 115347 JAK2 Exons 12-15 Mutation Anal N/A
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489415 Indications 42349-1
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489416 Specimen Type 31208-2
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489391 Nucleotide Change 48004-6
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489392 Amino Acid Change 48005-3
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489393 Background 77202-0
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489394 Method 49549-9
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489412 References 75608-0
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489413 Director Review 72486-4
Reflex Table for Reflex:
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 115101 JAK2 Exons 12-15 489414 JAK2 E12-E15 Mutation N/A

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