Single ExomeXtra®

Whole exome diagnostics of all clinically relevant genes

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 38,000 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

Clinical Design

All known disease-causing regions throughout the genome are covered


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


Average dignostics coverage of > 100x

Comprehensive Medical Report

Created by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

4 – 6 weeks* after sample receipt


Highest confidentiality and quality standards


Reliable support throughout all steps


Clearly prepared medical report

* Due to high demand and a large number of urgent and prenatal cases, our turnaround time is currently slightly increased. For urgent samples, our processing time will of course remain 2-3 weeks.

Service Details

Medical Report with:

  • Variants with clinical relevance (ACMG class 3, 4, 5)
  • Interpretation & discussion of these variants and the affected genes
  • 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:

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 ( and we will assist you in choosing 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

Saskia Biskup about ExomeXtra®

Webinar: Better than exome, smarter than genome

Designing the best possible exome


Order Form ExomeXtra®
Sample Report Single ExomeXtra®
Exome Diagnostics Brochure
Exome Diagnostics 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