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JAK2 Mutation Qualitative
Test CodeJAK2M
CPT Codes
81270
Preferred Specimen
- LAV (3-5 mL whole blood)
- 1-2 mL Bone marrow
Other Acceptable Specimens
Green (NA Heparin)
Instructions
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
Transport Temperature
Ship at room temperature.
Specimen Stability
48 hours
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
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
Report Available
4 days
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.
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.
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.
Performing Laboratory
Genzyme/Integrated Oncology
Additional Information
JAK2M
