What is exome sequencing?
With exome analysis we can identify a genetic diagnosis in rare disease.
More about Exome sequencingWhat is exome sequencing?
Rather than be limited to analyzing single genes, exome analysis is aimed to cover the human exome, the coding region of all (20000) human genes. The technique that is used to cover the human exome can be Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS). All types of variants are potentially detectable by these assay. Due to this, exome analysis has proven to be a diagnostic test with a very high diagnostic yield.
Advantages of exome sequencing:
- The diagnostic yield of exome analysis is higher than achieved by Sanger sequencing
- Exome analysis can solve complex clinical cases
- Exome analysis can lead to a quicker genetic diagnosis
Our exome analysis approach:
Exome analysis is implemented in our Genome Diagnostics laboratory, in close collaboration with clinicians, clinical laboratory geneticists and scientists.
Our Exome analysis consists of 3 major steps:
- Whole exome or Genome Sequencing
- Exome Data Analysis
- Clinical Interpretation & Reporting
Clinical interpretation & reporting
There are several possible outcomes.
More about Clinical interpretation & reportingInformation for referrers
Exome panels
Please visit our ordering website to view the panels we currently offer as well as the previous versions of these panels.
To view our policy on disclosing incidental findings click here.
Questions? Send an e-mail to: gen@radboudumc.nl