Single ExomeXtra®

Whole exome diagnostics of all clinically relevant genes

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. Our singleton exome enrichment, providing deep and homogenous coverage of all known disease-causing regions of the genome.

Single ExomeXtra® is the best possible whole exome diagnostics (WES) test for an individual patient. It is 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!

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What We Offer with This Service

Clinical Design

All known disease-causing regions throughout the genome are covered

Analysis

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

Coverage

Average dignostics 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

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

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 (CNV) — more information

Additional Services:

ACMG gene panel — more information
pharmacogenetics — more information
HLA typing — 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 choosing the optimal sample for your patient.