Whole Exome Sequencing (WES) is an efficient procedure for a simultaneous analysis of all coding sequences of a patient’s genome (and can be extended to include further family members).

This full analysis is particularly helpful in patients with complex, non-specific disorders, where more targeted gene sequencing in the form of a gene panel is not possible or not considered expedient or where prior gene panel testing did not result in a diagnosis.

In addition to a full analysis of a WES dataset, our service includes flexible and free selection of genes to be analysed in a WES dataset (virtual panels), enabling highly individualised investigations of every patient’s questions.

We provide high-excellence Whole Exome Sequencing services that enable a detailed analysis of further genomic regions, relevant for disease.

Further characteristics of our WES services include:

• Reliable determination of Copy Number Variants (CNVs) and of other complex genomic constellations and rearrangements
• Data evaluation based on clinical aspects and aspects of differential diagnostics (HPO terms).
• Carefully selected, expert-reviewed, guideline-compliant evaluation algorithms that ensure high-sensitivity results and a detailed interpretation of the causative variants.
• Duplicate evaluation and interpretation of the complex data through our interdisciplinary, highly experienced team of scientists and physicians specialising in human genetics that ensure excellent reliability and quality.
• Quick turnaround times, especially in time-critical (e.g. prenatal) cases.
• Clearly structured, conclusive and concise reports.

Our request form for WES testing is available here.

Please contact us if you have questions about our diagnostic services. We look forward to your call or e-mail.