Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

Abstract

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

• erythrocytosis
• Exon 12
• JAK2
• next generation sequencing
• polycythemia vera