ExomeFocus® is the result of our many years of experience in genetic diagnostics and bioinformatics, representing the most efficient approach for singleton exome diagnostics. The exome includes all protein-coding regions (exons) of the approximately 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 identified to be located within the exons. In addition, our exome design also covers more than 33,500 non-coding variants described as disease-relevant in the databases HGMD and ClinVar.
ExomeFocus® is based on our proprietary, high-quality exome enrichment, providing deep and homogeneous coverage of all known disease-causing regions of the genome. Our in-house developed software uses our extensive in-house database of genetic variants as well as all publicly available databases to data-mine the patient’s exome for high-impact variants. Our scientific team then evaluates these high-impact variants to ensure clinical relevance for the patients’ phenotype.
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 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 selecting the optimal sample for your patient. (diagnostic-support@cegat.de) and we will assist you in selecting the optimal sample for your patient.
Further Information
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.
