Note: This assay replaces the former JAK2 Exon 12-13 Mutation Analysis performed by RT-PCR/bi-directional sequencing.
JAK2 Extended (Exon 12-15 non-V617F) Mutation Analysis by NGS
- NGS
Note: This assay replaces the former JAK2 Exon 12-13 Mutation Analysis performed by RT-PCR/bi-directional sequencing.
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
A small subset of polycythemia vera (PV) patients that are JAK2 V617F mutation negative will harbor JAK2 mutations in exon 12, usually small in-frame deletions or insertions. JAK2 exon 12 mutated PV shows similar prognosis to JAK2 V617F mutated cases. Other rare non-V617F mutations can be detected in exons 13, 14 and 15 of the JAK2 gene. (References: PMID: 36347013, 29274140)
*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