JAK2V617F Mutation Analysis, Qualitative

CPT: 81270
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Test Details

Synonyms

  • JAK2 V617F (Exon 14 Mutation)
  • Janus Kinase 2V617F Mutation Detection

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 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 V617F mutation has also been detected, although infrequently, in other myeloid disorders, such as chronic myelomonocytic leukemia and chronic neutrophilic leukemia.

Limitations

This analysis will only detect the nucleotide change encoding the V617F mutation within JAK2. Other mutations within the JAK2 gene will not be detected by this analysis. This assay has a sensitivity of approximately 5% for the detection of cells containing the JAK2 mutation within a background of nonmutant cells. A negative result does not exclude the presence of a chronic myeloproliferative disorder or other neoplastic process.

Methodology

Allele-specific polymerase chain reaction (PCR); capillary electrophoresis

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

Storage Instructions

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.

References

Baxter E, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005; 365(9464):1054-1061; erratum: Lancet. 2005; 366(9480):122.
James C, Ugo V, LeCouedic JP, et al. A unique clonal JAK2 mutation leading to constitutive signaling causes polycythaemia vera. Nature. 2005; 434(7037):1144-1148.
Jones AV, Kreil S, Zoi K, et al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood. 2005; 106(6):2162-2168.
Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med. 2005; 352(17):1779-1790.
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; 80(7):947-958 (review).

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489200 JAK2 Mutation Analysis, Qual 489201 JAK2 V617F mutation detection 43399-5
489200 JAK2 Mutation Analysis, Qual 489204 Director Review: 72486-4
489200 JAK2 Mutation Analysis, Qual 489347 Background: 77202-0
489200 JAK2 Mutation Analysis, Qual 489457 JAK2 Mutation Analysis, Qual N/A

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