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 33,500 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!
What We Offer with This Service
Our Promise to You
Service Details
Medical Report with:
- Variants with phenotypical relevance (ACMG class 3,4,5)
- Scientific background for the gene where causative variants have been detected
- Interpretation & discussion of these variants and the affected genes
- Interpretation of genetic relevance for family planning
- Recommendations for clinical disease management & further tests
- Detection of copy number variants (CNV) – more information
Additional Services:
- ACMG gene panel – more information
- Pharmacogenetics – more information
- HLA typing – more information
- Expansion to Trio ExomeXtra® possible – more information
Sample Report
Our Standard Sample Requirements
- 1-2 ml EDTA blood (recommended sample type)
- Genomic DNA (1-2 µg)
- DBS cards, buccal swabs, or saliva are also possible
Here you can find more information on how to ship your sample safely.
Other sample material sources are possible on request. Please note: In case of insufficient sample quality, the analysis might fail. If you have more than one option of samples, please contact us (diagnostic-support@cegat.de) and we will assist you in choosing the optimal sample for your patient.
Further Information
Saskia Biskup about ExomeXtra®
Webinar: Better than exome, smarter than genome
Designing the best possible exome
Downloads
Contact Us
Do you have a question, or are you interested in our service?
Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
