CeGaT Revolutionizes Exome Diagnostics with Genome-wide CNV Analysis

November 16, 2023

The new and unique CNV backbone enables genome-wide analysis and high-resolution detection of copy number variations (CNVs), including additional variants classified as disease-relevant. Thus, ExomeXtra® combines the advantages of WES, WGS, and array CGH, covering all relevant genome regions.

CeGaT’s ExomeXtra® has been adapted to the current knowledge in human genetics as part of regular updates. It now also enables the detection of deletions and duplications in the entire genome. The new CNV backbone allows CNV calling in coding regions and CNV detection in non-coding regions. The latter is unique in exome diagnostics, providing more uniform coverage and increasing the probability of finding a disease-causing mutation. The diagnostic resolution of the CNV backbone is at least 50 kb, comparable to array CGH.

In addition to this new feature, new non-coding variants from HGMD and ClinVar, classified as pathogenic or likely pathogenic, have been incorporated. The number of intronic and intergenic variants has been increased to more than 38,000. Thus, ExomeXtra® includes all regions of the genome described as disease-relevant in these databases. Furthermore, our in-house exome design incorporates a clinically relevant selection of non-coding RNA genes, flanking intronic sequences, and the entire mitochondrial genome.

With only one test, you receive the advantages of whole genome sequencing (WGS) for clinically relevant non-coding regions and high-quality whole exome sequencing (WES), which now also includes the full diagnostic performance of an array CGH. Benefit from our unique service and offer your patients the “Xtra” in exome diagnostics.

For more information about CeGaT’s ExomeXtra®, please click here:

We are looking forward to answering your questions and giving advice. Feel free to contact us by email at diagnostic-support@cegat.de.