72076 Tübingen, Germany
CeGaT GmbH, Tuebingen (Germany), was founded by Dr. Dr. Saskia Biskup and Dr. Dirk Biskup in 2009. The basis of CeGaTs success is an established high-throughput process for the use of next-generation sequencing (NGS) in diagnostic testing and the up-to-date knowledge of hereditary genetic diseases.
CeGaT is a diagnostic company that has its strength in identifying the pathogenic gene variation of a patient. There are numerous diseases where not only one gene variation might be responsible for the disease, but hundreds of genes. In these heterogenetic diseases, analysis of only one gene is very unlikely to be successful. Single gene testing (which was state-of-the-art until 2011), would not detect the causative gene variation in 80-90% of all cases. Consequently, CeGaT has invented Diagnostic Panels: By simultaneously sequencing all genes associated with a certain disease applying next-generation sequencing platforms, the probability of finding the causative gene variation is extremely high. In addition, this approach is much faster and considerably less expensive than the classical gene by gene sequencing. Meanwhile, CeGaT has established a total of 146 Diagnostic Panels, covering more than 1,700 individual genes. The sequencing data are interpreted based on the latest knowledge and are summarized in a medical report.
CeGaTs Diagnostic Panels provide huge benefit for patients and relatives as it becomes possible to clarify the genetic cause in affected families to secure a clinical diagnosis. This in turn facilitates an early therapeutic intervention and provides the basis for new therapeutic strategies in the long-term. Moreover, by knowing the genetic cause of the disease, the most effective drug can be described and ineffective drugs and related side effects can be avoided.
CeGaT lab is following all relevant laws and guidelines and is accredited as a Human Molecular Genetics Diagnostic Laboratory (DIN EN ISO 15189:2007). All steps of the process – from the receipt of the sample up to issuing a medical report – are conducted in-house and are quality controlled.
CeGaT processes several thousand patient samples per year. Its team consists of experts from the fields of medicine, genetics, biology, biochemistry and bioinformatics. For diagnostic purposes, CeGaT uses different NGS technologies (HiSeq 2500 and MiSeq, Illumina; IonTorrent, Life Technologies) and classical Sanger sequencing to identify and validate causal gene variations for disease-causing variants in the human genome.