Recent advances in next generation sequencing have revolutionized the detection and characterisation of fusion genes in cancers. Targeted RNA-sequencing is a means of detecting fusions in a panel of genes based on the presence of one of the participating genes in a targeted enrichment.
Our custom haemato-oncology RNA-sequencing panel is a targeted enrichment panel to analyse gene fusions and, where relevant, partial tandem duplications, involved in haematological malignancy. The panel encompasses regions from 49 genes and includes recurrent fusion partners associated with myeloid and lymphoid malignancy subtypes detailed on the NHSE genomic test directory that are amenable to this method of detection.
Diseases in which fusion panel testing is funded and may be clinically useful include AML, ALL, MPN and MDS.
Exclusions: fusions in lymphoid malignancy that upregulate wild-type oncogene transcripts via a positional effect such as translocations involving the promotor regions of immunoglobulin and T-cell receptor genes.