Diagnosis of exon 12-positive polycythemia vera rescued by NGS

Clin Case Rep. 2020 Mar 21;8(5):790-792. doi: 10.1002/ccr3.2720. eCollection 2020 May.

Abstract

A JAK2V617F-negative polycythemia associated with low serum epo needs to be tested for an exon 12 JAK2 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative results.

Keywords: Exon 12; JAK2; erythrocytosis; next generation sequencing; polycythemia vera.

Publication types

  • Case Reports