Multiplex Polymerase Chain Reaction (PCR) with Capillary Electrophoresis
Mutations within exon 12 of the JAK2 gene occur in most cases of JAK2 V617F-mutation negative polycythemia vera. Testing for JAK2 exon 12 mutations may aid in the diagnosis of polycythemia vera, and is recommended in patients with JAK2 V617F-negative erythrocytosis. This test will qualitatively detect JAK2 exon 12 mutations in peripheral blood or bone marrow specimens with a sensitivity down to 2% mutant allele. This is a second order test and should be used only following a JAK2 V617F-negative result.
Interpretive report provided.
The limit of detection of this assay is 4% mutation-bearing cells. Mutations may not be detected in samples with a neoplastic burden below this level. In addition, this test will only detect insertions, deletions or K539L. Rare substitution mutations other than K539L (accounting for less than 5% of described JAK2 exon 12 mutations) will not be detected.
2 - 7 days
- JAK2 Exon 12 Mutation Detectio
- Polycythemia Vera
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 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.