As part of the regular updates, CeGaT has brought its own exome diagnostics in line with the latest knowledge in human genetics: The in-house developed design of CeGaT ExomeXtra® has been extended by variants newly classified as disease-relevant, which can be used to solve more patient cases. This design, which covers all relevant regions of the genome, and the uniform, high coverage make ExomeXtra® the most effective genetic test on the market for the diagnosis of rare diseases.
As part of the latest update, new non-coding variants of HGMD and ClinVar, classified as pathogenic or likely pathogenic, have been included. Since the launch of ExomeXtra® three years ago, the number of intronic and intergenic variants has increased from over 20,000 to more than 33,500 variants. Thus, ExomeXtra® continues to cover all regions of the genome described as disease-relevant in these databases. In addition, a clinically relevant selection of non-coding RNA genes, flanking intronic sequences, and the entire mitochondrial genome are part of the exome design, forming a comprehensive data basis for profound genetic diagnostics.
Better than exome, smarter than genome
Three years ago, CeGaT created ExomeXtra®, the most effective genetic test for patients with rare genetic diseases. ExomeXtra® combines all achievements of genetic diagnostics in one test. In addition to the smart clinical design, a sufficiently high and uniform coverage ensures consideration of all variants. This also enables the detection of mosaicisms that are systematically missed in whole genome sequencing analyses, thereby significantly increasing the solution rate. ExomeXtra® thus achieves higher diagnostic sensitivities than WGS, which is often described as the most comprehensive genetic analysis.
Continuous updating and improvement
Regular updates ensure that CeGaT’s exome diagnostic stays up to date and represents the latest genetics research resulting in a gradual increase in the case solution rate. The knowledge about genetic diseases is growing rapidly, and new genomic regions of clinical relevance are identified every year. We, therefore, continuously review and revise our genetic diagnostics. In addition, with each update, we have improved coverage to increase sensitivity, especially in regions where commercially available offerings remain blind. This is the fourth update in three years.
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