Open AccessDiagnosis of exon 12‐positive polycythemia vera rescued by NGS
Author(s) -
Geay Antoine,
Aral Bernard,
Bourgeois Valentin,
Martin Pauline,
Airaud Fabrice,
Garrec Céline,
Bézieau Stéphane,
Gardie Betty,
Girodon François
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2720
Subject(s) - polycythemia vera , medicine , exon , mutation , dna sequencing , iron supplementation , gastroenterology , genetics , gene , anemia , iron deficiency , biology
A JAK2 V617F‐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.