Exome Diagnostics

The sum of all coding regions in a genome is called the exome. In humans, this includes 23,000 genes with approximately 50 million bases. With whole-exome sequencing (WES), all exons (protein-coding regions) are analyzed. The genetic testing is therefore focused on the analysis of the 1%–2% of the human genome where 85% of known pathogenic mutations are found.

Exome Diagnostics includes the sequencing of a patient’s exome (and possibly the patient’s relatives), the analysis of sequencing data, and the summary of the results in a comprehensive medical report. Exome analysis is based on next-generation sequencing (NGS), and is used to identify variants in single genes that cause rare genetic diseases. This testing is the method of choice to detect the cause of disease in patients with complex, unspecific symptoms and indefinite diagnoses.

Sequencing of a whole exome is also useful if a specific panel used to analyze the patient’s symptoms is not available. Based on exome data, compiled gene lists can be evaluated as Custom Panel.

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The number of variants detected using Exome Diagnostics is very high. To accelerate and focus the interpretation of the results, the symptoms of the patients are recorded with as much precision and detail as possible. A team of experts and human geneticists create an individual list of candidate genes that are known to be associated with the symptoms of the patient with the help of the Human Phenotype Ontology (HPO). In the context of single Exome Diagnostics, detected variants within candidate genes are evaluated and the results and interpretation are summarized in a medical report that is returned to the treating physician.

Trio Exome Diagnostics is a powerful way to identify causative variants. The parents of the patient are also tested and an exome-wide segregation analysis is performed. This allows variants to be filtered and non-pathogenic variants to be eliminated. Reports in the literature demonstrate a significant increase in diagnostic detection rates, from 21% for single Exome Diagnostics to 37% for Trio Exome Diagnostics (Farwell, 2015). The higher detection rates are achieved because Trio Exome Diagnostics:

  • enables the better identification and interpretation of genes and variants that are not known to be clinically associated with the disease, and
  • crucially, improves the detection of causative mutations which are frequently new (de novo) in the patient.

Trio Exome Diagnostics is particularly time- and cost effective, because the number of variants to evaluate is minimized, and the numerous segregation analyses of single variants, necessary when using Sanger sequencing, are avoided.

To perform (Trio) Exome Diagnostics, the patient (and possibly relatives) needs to attend genetic counseling according the German Gendiagnostikgesetz (GenDG).


Enrichment of coding regions as well as flanking intronic regions (+/-10 bp) are accomplished by use of the in-solution technology from Agilent (SureSelectXT Human All Exon V7) to guarantee an even distribution of reads. High-throughput sequencing is carried out by the Illumina NovaSeq and MiSeq platforms.

Material and Turnaround Time

Material: 1-2 ml EDTA blood or 1-2 µg genomic DNA.

Required Documents:

  • Declaration of Consent according to German Gendiagnostikgesetz (GenDG)
  • Order Form
  • Payment Agreement

Turnaround Time: 4–6 weeks