ARUP's Laboratory Test Directory
| 0040168: JAK2 Gene, V617F Mutation, Quantitation |
| Test Mnemonic: JAK2 QNT | |
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Methodology: Polymerase Chain Reaction
Performed: Tue, Thu Reported: 7-10 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A).
Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Stability: Ambient: 24 hours; Refrigerated: 5 days; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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This test is performed pursuant to an agreement with Roche Molecular Systems, Inc. Background Information: Characteristics: Myeloproliferative disorders (MPD) are diseases in which certain types of blood cells are overproduced in the marrow. These include idiopathic myelofibrosis, essential thrombocythemia, and polycythemia vera. The disease usually develops slowly, and most patients do not experience severe problems related to the disease, but the disease may transform into acute myelogenous leukemia. Patients with MPD have an increased tendency to form blood clots that can result in strokes or heart attacks, or experience abnormal bleeding due to abnormal platelets. Incidence: Rare disease [4.9:100,000 pers./yr (US)], incidence increases with age (>40yrs), male-to-female ratio: (1.2-2.2):1. Genetics: Acquired mutation in the JAK2 gene not found commonly in the population. The variant occurs within the pseudokinase domain c.1849G>T (V617F), is present in >80% of polycythemia vera patients. Homozygous in 30% of polycythemia vera patients due to mitotic recombination of chromosome 9p. Variants Detected: JAK2 c.1849 G>T (V617F). Clinical Sensitivity: Greater than 80% in polycythemia vera patients, 40% in essential thrombocythemia patients, 50% in idiopathic myelofibrosis patients. Methodology: Allele-specific real-time PCR Analytical Sensitivity: 99% accurate Limitations: Only the one point mutation detected. This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. Food and Drug Administration, however, FDA clearance or approval is not currently required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. |
| CPT Code(s): | |
| 83891 Isolation; 83898 x2 Amplification; 83896 Nucleic Acid Probe; 83912 Interpretation and report |