Multiple fusions in the same gene

Occasionally, when a true positive fusion in a gene pair is detected, a second fusion in the same gene pair may also be reported. Generally, a single fusion has occurred in this pair of genes in this sample, and all the read evidence that covers any exon is reported, and occasionally appears as a second fusion that usually describes a different exon in one of the genes. This second fusion may be described as one of the following:

  • A targeted fusion, that is, the panel has a specific assay designed to detect this fusion, so is designated as Present in the Detection column.

  • A non-targeted fusion. That is, the fusion is detected, but the panel has no specific assay pair designed for this fusion, so it is designated as Present-Non-targeted in the Detection column.

Biologically, both of these calls are likely from the same underlying fusion in the gene pair.