Optimised, 1-day hybridisation-based NGS protocol yields 1% variant detection in MPN samples, as quickly and cost-effectively as multiplex PCR

Contributors

Graham Speight¹ , Ephrem Chin¹ , Lyudmila Georgieva¹, Nick Cross² and David Cook¹

¹OGT, Oxford, UK and ² National Genetics Reference Laboratory - Wessex, UK

Introduction

• 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 key MPN driver mutations involve JAK2 (V617F [occurrence of 50-98% depending on the MPN subtype]), JAK2 exon 12, MPL W515K/L and CALR exon 9 insertion and deletions. 
• 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 a 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 a new streamlined 1-day hybridisation-based Next Generation Sequencing (NGS) library preparation kit (LPK).