JAK2 V617F Mutation Analysis by NGS

Casandra

Casandra Test Code NG54820Version 1 (DRAFT)

Performing Lab

Lab NeoGenomicsLab Test ID N/ACPT Code 81270

JAK2 V617F Mutation Analysis by NGS

Clinical Use

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.