Single ExomeXtra® is the best possible whole exome diagnostics (WES) test for an individual patient. The exome includes all protein-coding regions (exons) of about 23,000 genes in the human genome. Although the exome accounts for only about 1-2% of the whole genome, approximately 89% of all known disease causing mutations are located within the exons. In addition, our proprietary design also covers more than 38,000 non-coding variants described as disease-relevant in the databases HGMD and ClinVar.
Single ExomeXtra® is based on our proprietary, high-quality exome enrichment that provides deep and homogeneous coverage of all known disease-causing regions of the genome. Based on a precise description of the patient’s phenotype, an individualized list of candidate genes associated with their symptoms is created. This includes all clinically relevant genes, as well as genes associated with differential diagnoses, based on the Human Phenotype Ontology (HPO) and internal databases.
Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!