The detection of fusion events has traditionally been performed using fluorescence in situ hybridisation (FISH) and/or polymerase chain reaction (PCR)-based techniques, which, whilst effective, do have some limitations. This study explores the use of next-generation sequencing (NGS) in allowing for the simultaneous detection of multiple fusion genes in a single assay, including multiple partners for the same genes and novel fusions.
The results of this study evidence the capability of the SureSeq™ Myeloid Fusion Complete NGS Workflow Solution V2 to achieve 100% accurate detection for novel and canonical fusion events.
The use of NGS, therefore, with its facility to allow concurrent detection of multiple known and novel rearrangements, can offer a useful addition to routine cytogenetic approaches.