Exome sequencing diagnostics

Exome sequencing diagnostics






Genome Diagnostics Nijmegen offers Exome Sequencing Diagnostics to identify the genetic cause of genetically heterogeneous disorders.

Exome sequencing diagnostics includes:
  • Exome Sequencing
  • Exome data analysis*
  • Clinical interpretation and reporting**

*Exome data analysis is performed using an in house developed bioinformatic pipeline and with variant filtering according to the requested in silico exome gene panel. If the exome gene panel analysis does not reveal the genetic cause of the disorder, an exome wide analysis can be performed (informed consent needed).

**The diagnostic interpretation of exome data can be requested separately in case you already have exome sequencing data, but still lack the diagnostic interpretation. For instructions on how to send us your exome sequencing data, please contact us via info@genomediagnosticsnijmegen.nl

For more information about our exome sequencing diagnostics service visit our more information page.

Costs and Turnaround time:
  • Price: €990 per single exome or €2000 per trio analysis
  • TAT:   4 months

Available exome gene panels:

By clicking on the individual gene panel mentioned above, the genes included in the panel, and their average coverage's, can be viewed.

To order one of the above exome panels please visit our ordering site.

Please complete the request form with all needed data at this site. Also include detailed clinical data. Such data are essential for correct and straightforward diagnosis. Additionally, we require the informed consent to be communicated to and signed by the patient or his/her legal representative.

At the ordering site you can also find our track record/recent publications and more information about diagnostic exome sequencing, informed consent, and our tests.

*workflow Exome Sequencing Diagnostics


 FAQ (frequently asked questions)