Jianxiang (Jason) Chi
Karaiskakio Foundation, Cyprus
Posters & Accepted Abstracts: J Blood Disord Transfus
The recent discovery of frame shift mutations in Calreticulin (CALR) in approximately 70% of myeloproliferative neoplasms (MPN) patients lacking the Janus Kinase 2 (JAK2) and myeloproliferative leukemia (MPL) mutations offer a reliable diagnostic marker for the diagnosis of MPN. Different approaches can be applied for the detection of CALR mutation in diagnosis laboratory. E.g., Sanger sequencing, RT-QPCR, High resolution of melting curve, fragment analysis or classic gel documentation. However, we still lack certain knowledge of �??triple negative�?� case which usually leads to a poor prognosis. A universal approach for the mutation detection of MPN is needed for MPN mutation. With the next generation sequencing method becoming more and more popular in diagnosis laboratory, the developing a next generation sequencing based gene panel of MPN might be a solution for this.
Email: jason.chi@karaiskakio.org.cy