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JAK2 MUTATION ANALYSIS, QUAL
Test Code489200
Alias/See Also
Janus Kinase 2V617F Mutation Detection
CPT Codes
81270
Preferred Specimen
"Whole blood or bone marrow
3-5 mL whole blood or 1-2 mL bone marrow
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3-5 mL whole blood or 1-2 mL bone marrow
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Minimum Volume
"3 mL whole blood or 1 mL bone marrow
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Transport Container
"Lavender-top (EDTA) tube or green-top (sodium heparin) tube
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Transport Temperature
room temp
Specimen Stability
"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.
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
"Sample greater than 72 hours old; clotted blood
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Methodology
"Allele-specific polymerase chain reaction (PCR); capillary electrophoresis "
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 ~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.
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Clinical Significance
"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.
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