Copy number variations (CNVs) are changes in the genome in which certain DNA segments vary in number. These changes can have significant effects on gene function and associated diseases. Thanks to the new CNV backbone, ExomeXtra®, CeGaT’s proprietary exome diagnostics, detects copy number variations even in non-coding regions of the genome. The diagnostic resolution is at least 50 kb. Otherwise, array CGH (Comparative Genomic Hybridization) analysis is often used to identify CNVs in genetic data.

More solved patient cases with just one test

CeGaT pursues the goal of finding the cause of every genetic disease. To this end, the Tübingen-based company continuously focuses on innovation and the further development of its own portfolio. Dr. Dirk Biskup, Managing Director and Co-founder of CeGaT, remembers: “We developed ExomeXtra® in 2020 to combine the advantages of different genetic tests. Physicians should no longer have to choose from several tests but should be able to make a reliable diagnosis as quickly as possible using a single test – this is particularly important for patients with rare diseases, who often go through a diagnostic odyssey. Therefore, the addition of the CNV backbone to ExomeXtra® was a logical next step: This additional analysis ensures that copy number variations can also be detected outside the coding region as part of the examination. Thus, further cases of disease can be solved – without having to perform an additional array CGH.”

Better than exome, smarter than genome: ExomeXtra® has set new standards in genetic diagnostics

Thanks to its extra smart design combined with extra thorough data analysis, ExomeXtra® has set new standards in genetic diagnostics. Dr. Florian Battke, Head of Development at CeGaT, emphasizes: “With ExomeXtra®, we go far beyond what commercial exome designs and analysis pipelines offer. For us, a clinically useful exome design must cover all known disease-relevant areas of the genome with a high coverage, such as the entire mitochondrial genome and disease-relevant non-coding areas. This allows us to generate a reliable database for successful diagnostics.”

With regular updates, CeGaT ensures that its own exome diagnostics are always up to date with the latest human genetic findings. The further development of ExomeXtra® represents another step forward for medical genetics and underlines CeGaT’s commitment to continuously provide innovative solutions to improve patient care.

The new version of ExomeXtra® (version 5.0) now includes:

• all protein-coding regions of the genome
• clinically relevant RNA genes
• > 38,000 intergenic and intronic positions associated with genetic disease according to ClinVar, HGMD and internal databases
• high and uniform coverage of the entire mitochondrial genome to reliably detect different degrees of heteroplasmy
• pharmacogenetically relevant variants in selected genes
• the new backbone for genome-wide detection of copy number variations (CNVs)

ExomeXtra® is sequenced at CeGaT with a coverage of 100-120x. This allows better solution rates to be achieved than with genome sequencing.