Polymerase Chain Reaction (PCR)
Detection of the JAK2 c.1849G>T (V617F) mutation in myeloproliferative neoplasms: polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This test is indicated for evaluation of patients with unexplained and sustained elevation of red blood cell or platelet counts, splenomegaly or bone marrow fibrosis of undetermined causation, and patients in whom a diagnosis of a chronic myeloproliferative disorder is a consideration. The JAK2 V617F mutation is detectable in approximately 95% PV, 55% ET, and 65% PMF patients. A negative result does not rule out a diagnosis of PV, ET, or PMF.
Interpretive report provided.
The limit of detection of this assay is approximately 1% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level. In addition, low-level mutations (<1-5%) have been described in individuals with other evidence of a myeloproliferative neoplasm. Clinicopathologic correlation with JAK2 V617F results is required.
2 - 7 days
- JAK2 c.1849G>T (V617F) Mutation
- Tyrosine kinase Mutation
- Janus kinase 2 gene Mutation
- LEUKOCYTE ALKALINE PHOSPHATASE
- JAK2 (V617F) Mutation Analysis
- JAK2 (V617F) Mutation Shadow
- Polycythemia Vera
- Essential Thrombocythemia
- Idiopathic Myelofibrosis
- LAP Score
Collect blood or bone marrow in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection. Fresh tissue (preferably 0.5cm3, sent in RPMI) and fresh aspirates or body fluids are acceptable. Refrigerate and send, preferably within 24 hours. Frozen tissue specimens – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice. Fresh cell suspensions in RPMI should be refrigerated and sent, preferably within 48 hours. Frozen cell suspensions – preferably frozen with 1 hour of collection – may also be sent frozen on dry ice.
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.