Focused and cost-efficient singleton analysis for fast results

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 38,000 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 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.

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

Clinical Design

All known disease-causing regions throughout the genome are covered


Including intronic, intergenic regions, cryptic exons, and additional CNV screening


Average diagnostics coverage of > 100x

Comprehensive Medical Report

Created by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

2–4 weeks after sample receipt


Highest confidentiality and quality standards


Reliable support throughout all steps


Clearly prepared medical report

Service Details

Medical Report with:

  • variants with clinical relevance (ACMG class 3, 4, 5)
  • interpretation & discussion of these variants and the affected genes
  • interpretation of genetic relevance for family planning
  • recommendations for clinical disease management & further tests
  • genome-wide detection of copy number variants (CNVs) – more information

Additional Services:

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.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.

Diagnostic Process

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling

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


Order Form ExomeXtra®
Sample Report ExomeFocus®
Exome Diagnostics Brochure
ExomeFocus® Flyer (EN)
Revolution in Exome Diagnostics

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.

Diagnostic support team of CeGaT