ExomeFocus® is designed for patients where a targeted analysis is the right first step. Our proprietary software systematically identifies high-impact variants across the patient’s exome — drawing on our extensive internal database of genetic variants and publicly available databases. These high-impact variants are then evaluated by our scientific team for clinical relevance to the patient’s phenotype. A cost-efficient alternative — with the option to upgrade to Trio ExomeXtra® at any time.
Is your patient insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!
The Benefits of Our ExomeXtra® at a Glance
Our Promise to You
Service Details
Scope of Analysis
- Coding and non-coding disease-associated regions — analyzed through our curated High-Impact Variant List
- Mosaic variant detection
- Genome-wide CNV detection
- Screening for relevant infections
Medical Report Includes
- All relevant variant types: sequence variants (SNV, indel), small copy-number variants (CNV), and large aneuploidies – including mosaic variants
- Variants of ACMG classes 3, 4, and 5 — classified and interpreted in the context of your patient’s phenotype
- Variants of uncertain significance (VUS) further classified by likelihood of pathogenic effect
- Direct recommendations for clinical management and further testing, where applicable
- Assessment of genetic relevance for family planning
Optional Add-On Services
- Analysis of all ACMG genes
- HLA typing
- Pharmacogenetic analysis including dosing information
- Upgrade to Trio ExomeXtra® available at any time
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
5 years of ExomeXtra® with Dr. Florian Battke
The Evolution of ExomeXtra®
Webinar: Learn How We Can Help You Solve Complex Patient Cases
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.
