Note: This assay replaces the former JAK2 V617F Mutation Analysis - Qualitative performed by PCR.
JAK2 V617F Mutation Analysis by NGS
- NGS
Note: This assay replaces the former JAK2 V617F Mutation Analysis - Qualitative performed by PCR.
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
CPT Code(s)*
Level of Service
- Global
Integrations
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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).
*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.
Biomarkers
| SNVs + Indels | |||||
|---|---|---|---|---|---|
| JAK2 | |||||
Last Updated: March 02, 2026