Pitfalls in CALR exon 9 mutation detection: A single-center experience in 571 positive patients.
Emmanuelle VergerNabih MaslahMarie-Helene SchlageterChristine ChomienneJean-Jacques KiladjianStephane GiraudierBruno CassinatPublished in: International journal of laboratory hematology (2020)
Our observations showed that every mutation should be verified by direct Sanger sequencing, and we show that sometimes it may be necessary to study germline DNA and to complement with NGS analysis to precisely interpret the molecular alterations.