Lyudmila Georgieva, Ezam Uddin, Jacqueline Chan and Graham Speight
Myeloproliferative neoplasms (MPNs) are a group of diseases that affect blood cell production in the bone marrow resulting in the overproduction of one or more cell types.
The application of short read NGS for research into MPNs has been held back by the accurate and timely analysis of the key MPN driver mutations. These include: JAK2 V617F and exon 12, MPL W515K/L and S505N, and CALR exon 9 insertion and deletions (up to 52 bp).
Designed for research into the diagnosis, aetiology and prognosis of MPNs, the SureSeq™ Core MPN Panel has been developed by OGT in collaboration with recognised cancer experts to deliver accurate detection (down to 1% variant allele fraction [VAF]) of somatic variants of these key MPN driver mutations.
The aim of this study is to evaluate the SureSeq Core MPN Panel in conjunction with the new streamlined 1-day hybridisation-based NGS library preparation kit (LPK).
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