Genetic Analysis of the Tumor Diagnostics. Man hugs woman in the nature.

Fusion Transcript Analysis: CeGaT Enables a New Dimension in Tumor Diagnostics

CeGaT GmbH is expanding its tumor diagnostics with a new panel to detect gene fusions at the RNA level. Thus, CeGaT makes an essential contribution to the selection of the best therapeutic approach. The fusion transcript analysis enables the detection of predefined relevant fusions and gene fusions whose exact partners or fusion breakpoints are unknown. Our latest highly sensitive RNA-based analysis approach detects significantly more clinically relevant fusions than DNA or whole transcriptome analyses.

In particular, the research field of gene fusions in solid tumors has become increasingly important in recent years, both in diagnostics and in therapy. For example, there are highly effective drugs for patients with NTKR fusions. The drug Larotrectinib was the first cancer drug to be approved for all tumors with NTKR1 fusions, regardless of tumor entity.

CeGaT has, therefore, developed a diagnostic RNA-based fusion transcript analysis. This analysis allows detecting gene fusions and selected intragenic structural variants that may influence tumor development and the associated treatment decisions.

The fusion transcript analysis of CeGaT on RNA basis includes:

  • 106 genes for which a fusion with an unknown partner is also detected
  • 85 targeted breakpoint enrichments of known and described fusions
  • 5 specific therapy-relevant transcript variants

RNA-based fusion transcript analysis detects many more clinically relevant fusions than DNA or full transcriptome analysis.

The fusion transcript analysis is superior to DNA-based detection methods and approaches based on whole-RNA sequencing. To gain a complete understanding of the genetic makeup of the tumor and thus be able to make the best possible therapeutic decision, it is highly recommended to extend genetic tumor diagnostics by fusion transcriptome analysis.

CeGaT’s vision is to make comprehensive diagnostics based on the latest research results accessible and, as a result, to offer a high-quality and always up-to-date basis for therapeutic decisions. To ensure high quality and flexibility, all steps at CeGaT are performed in-house.

Further information on the fusion transcript analysis is avaliable here.