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JAK2 Exon 12-13 Mutation Analysis
- Molecular
This test uses RT-PCR and bi-directional sequencing of JAK2 Exons 12-13 to detect mutations in the pseudokinase domain.
Test Customization: Plasma testing available for increased sensitivity.
Test Recommendation: Add JAK2 V617F testing.
Clinical Significance
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.
Specimen Requirements
Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Test is RNA-based. Please select Extract & Hold - RNA If specimen hold service is desired.
Storage and Transportation
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible. NYS clients please provide date and time of Collection. Please select Extract & Hold - RNA if specimen hold service is desired.
CPT Code(s)*
81279 (as of 01/01/2021); Prior to CPT Code was 81403
*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.
Last Updated: August 27, 2025