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Update of CeGaT Exome Xtra Increases Solution Rate of Complex Patient Cases

Based on the latest scientific findings, CeGaT has optimized its whole-exome diagnostics, further increasing the solution rate of complex patient cases. Since the update, CeGaT Exome Xtra offers optional pharmacogenetic testing. The medical report will then also provide information on personal drug efficacy, enabling individualized medication.

One year ago, CeGaT launched CeGaT Exome Xtra, the most effective genetic test for patients with complex, non-specific, and rare diseases. CeGaT Exome Xtra combines all genetic diagnostics achievements in one test and solves more patient cases than commercially available whole-exome sequencing (WES) and whole-genome sequencing. Regular updates ensure that CeGaT Exome Xtra is always in line with the latest genetics research to increase the diagnostic yield.

20 percent more intronic variants covered

Unlike standard WES, CeGaT Exome Xtra considers all known disease-causing regions of the complete genome, including relevant intronic variants. In the update, the new relevant variants of the HGMD and ClinVar databases were also added to CeGaT Exome Xtra. The number of intronic variants covered was thus increased by more than 20 percent to almost 22,000 variants. CeGaT Exome Xtra thus still covers all regions of the genome described as disease-relevant in HGMD and ClinVar.

By including intronic variants, CeGaT Exome Xtra sets itself apart from commercially available exome enrichments. It is not limited to coding regions, but includes all disease-causing non-coding variants and also covers individual transcripts or cryptic exons.

Pharmacogenetic testing helps in drug selection and dosage

Pharmacogenetics takes into account that all people metabolize drugs in different ways: A drug that is beneficial to one person remains ineffective or may even cause harm in another. With this update, CeGaT Exome Xtra offers the option of pharmacogenetic testing. Exome Xtra data is used to classify about 80 active ingredients as to whether they are degraded quickly or slowly in the individual. Based on this information, physicians can select the most suitable drug and administer it in the correct dosage.

Continuous consideration of scientific progress

CeGaT Exome Xtra is designed to generate the most comprehensive sequencing data and provide an unmatched foundation for the best genetic diagnostics on the market. Knowledge of genetic diseases is expanding rapidly; new genomic regions of clinical relevance are identified every year. To reflect this progress, CeGaT continuously reviews and revises its genetic diagnostics. The diagnostic panels underlying CeGaT Exome Xtra are constantly updated in close collaboration with medical experts and using the latest literature.

With CeGaT Exome Xtra, patients and treating physicians benefit from a unique approach that combines the advantages of Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) while avoiding their disadvantages. Thereby, CeGaT Exome Xtra achieves better results than commercially available WES and WGS and dramatically increases diagnostic yield. More information can be found here.