RT-PCR and bi-directional sequencing to detect mutations in exons 12-13, corresponding to the majority of the JAK2 pseudokinase domain. Exon deletion mutations are detectable. Testing is performed on plasma for increased sensitivity whenever possible. V617F analysis is recommended before or concurrently with this test. Exon 12-13 Mutation Analysis may be ordered separately, with concurrent V617F testing, by reflex after negative V617F testing, or as part of the MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-13, CALR, and MPL. Testing is approved for specimens from the state of New York.
While the majority of polycythemia vera (PV) patients carry the V617F mutation (~90%), most of those who are negative carry one of over 40 additional JAK2 mutations in exons 12-15. RNA-based testing in this assay allows detection of deletions not detectable by DNA-based tests. Mutation analysis helps differentiate reactive conditions from malignant erythrocytosis.
- Peripheral Blood: 5mL EDTA tube
- Bone Marrow: 2mL EDTA tube
Note: Test is RNA-based. Please select Extract & Hold – RNA if specimen hold service is desired. If considering the MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-13, CALR, and MPL test as an add-on, we recommend adding Extract & Hold – DNA with Extract & Hold – RNA order.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <7 days old preferred.
7 days