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 2% of the whole genome, approximately 85% of all known disease-causing mutations are identified to be located within the exons. In addition, our exome design also covers more than 46,000 non-coding variants described as disease-relevant in the databases HGMD and ClinVar. Our singleton exome diagnostics is based on our proprietary, high-quality exome enrichment, providing deep and homogenous coverage of all known disease-causing regions of the genome.
ExomeFocus® is the result of our many years of experience in genetic diagnostics and bioinformatics, representing the most efficient approach for singleton exome diagnostics. Our developed software uses our extensive in-house database of genetic variants as well as 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.
In case of unresolved cases, there is always an option to expand the analysis to Trio ExomeXtra®.
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 clinical relevance (ACMG class 3, 4, 5) — more information
- genome-wide detection of copy number variants (CNV) – more information
- interpretation and classification of variants based on ACMG guidelines
- assessment of genetic relevance for family planning
- recommendations for clinical disease management and further tests, when applicable
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 ml–2 ml EDTA blood (recommended sample type)
- Genomic DNA (1 µg–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.com) and we will assist you in selecting the optimal sample for your patient.
Further Information
Webinar: Learn How We Can Help You Solve Complex Patient Cases
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.
