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JAK2 Extended (Exon 12-15 non-V617F) Mutation Analysis by NGS
- NGS
Next-generation sequencing to detect mutations on exons 12-15 of the JAK2 gene, excluding the V617F mutation. V617F analysis is recommended before or concurrently with this test. JAK2 Exon 12-15 non-V617F Mutation Analysis may be ordered separately (if JAK2 V617F analysis is already performed), with concurrent V617F testing, by reflex after negative V617F testing, or as part of the MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-15, CALR, and MPL.
Note: This assay replaces the former JAK2 Exon 12-13 Mutation Analysis performed by RT-PCR/bi-directional sequencing. NY samples are still processed by RT-PCR/bi-directional sequencing until further notice.
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)
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)*
81279
*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