Webinar Exome Diagnostics

Many patients affected by rare diseases remain undiagnosed for years. On average, the diagnostic odyssey takes 5 to 7 years,¹ up to 8 physicians,² and 2 to 3 misdiagnoses² until the correct diagnosis is made.

Genetic diagnostics can help shorten the diagnostic odyssey of your patients to one month!

In recent years whole exome sequencing and diagnostics have become the gold standard in NGS-based genetic diagnostics. Its usage helped to uncover the genetic reason for many different diseases and has expanded genetic knowledge substantially.

In 2020 CeGaT has brought Exome Diagnostics to the next level by introducing the CeGaT ExomeXtra®. It is the most comprehensive and sensitive NGS-based genetic test for patients with genetic disorders. The innovative approach combines all achievements of genetic diagnostics in one test. ExomeXtra® solves more patient cases compared to using commercially available whole exome sequencing (WES) or whole genome sequencing (WGS) kits.

CeGaT ExomeXtra® goes well beyond the potential of regular whole exome diagnostics, combining the advantages of whole exome sequencing (WES) and whole genome sequencing (WGS). It encompasses all medically relevant regions in the entire genome and considers factors that are often overlooked in regular genetic tests. Hence, CeGaT ExomeXtra® realizes better results than commercially available WES and WGS and thereby promises the best diagnostic yield.

Webinar: Three years CeGaT ExomeXtra^® – patient cases from daily routine

Stefan Griesbach, Ph.D., and Heinz Gabriel, Ph.D., illustrate the benefits and advantages of our exome diagnostics using examples from routine diagnostic practice.

1. Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. 2019.
2. Rare Disease Impact Report: Insights from patients and the medical community. globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.