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JAK2 V617F Mutation Analysis by NGS
- NGS
Next-generation sequencing of JAK2 gene for the detection of the V617F mutation only. This test may be ordered separately or with reflex to JAK2 Exon 12-15, to CALR, or to MPL, or as part of the MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-15, CALR, and MPL.
Note: This assay replaces the former JAK2 V617F Mutation Analysis - Qualitative performed by PCR. NY samples are still processed by PCR until further notice.
Clinical Significance
JAK2 V617F represents the canonical exon 14 gain-of-function mutation, which has been reported in >95% of patients with polycythemia vera (PV) and approximately 50-60% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). High JAK2 V617F variant allele fraction (>50%) is more commonly observed in PV and is associated with increased risk of myelofibrotic progression in both PV and ET. Targeted therapy directed at the JAK2 V617F mutation is available. (References: PMID: 35767897, 35732831, 36347013, 37357958, 27187622, 26473532, 38269572).
Specimen Requirements
Bone Marrow Aspirate: 1-2 mL in EDTA tube. Sodium Heparin is acceptable. Peripheral Blood: 3-5 mL in EDTA tube. Sodium Heparin is acceptable. Note: Test is DNA-based. Please select Extract & Hold - DNA 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. For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Do not freeze.
CPT Code(s)*
81270
*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: October 13, 2025