MPN JAK2 V617F with Sequential Reflex to JAK2 Exon 12-15, CALR, and MPL
Use
Identification of myeloproliferative neoplasm (MPN)-associated driver mutations is important in the diagnosis, prognosis and therapy selection of BCR-ABL1-negative MPN. 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.
Special Instructions
Not provided.
Limitations
The reflex pathway is discontinued once an informative pathogenic mutation is identified and downstream molecular analyses are not performed; if no mutation is detected, all four targets are reported as negative. The analysis for CALR and MPL mutations have specific mutation hotspots within exon 9 for CALR and exon 10 for MPL.
Methodology
NGS
Biomarkers
JAK2, CALR, MPL
Gene
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 is acceptable.
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.