JAK2 Extended (Exon 12-15 non-V617F) Mutation Analysis by NGS
Use
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.
Special Instructions
V617F analysis is recommended before or concurrently with this test. It may be ordered separately, 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.
Limitations
V617F mutation is excluded from this test. Assay is restricted to detect mutations on exons 12-15 of the JAK2 gene. NY samples processed by RT-PCR/bi-directional sequencing until further notice.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
1-2 mL
Minimum Volume
Not provided
Container
EDTA tube or Sodium Heparin
Storage Instructions
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.