JAK2 V617F Mutation Analysis by NGS
Use
JAK2 V617F represents the canonical exon 14 gain-of-function mutation, which is reported in over 95 % of patients with polycythemia vera (PV) and approximately 50–60 % of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). A 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.
Special Instructions
This assay replaces the former JAK2 V617F Mutation Analysis - Qualitative performed by PCR. New York samples are still processed by PCR until further notice.
Limitations
Not provided.
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 (Sodium Heparin acceptable)
Storage Instructions
For fresh samples: refrigerate before shipping and ship same day as drawn whenever possible. Use cold pack (not in direct contact). Do not freeze.