Our laboratory

Genome Diagnostics Nijmegen is an ISO 15189:2012 certified laboratory, which provides high quality and up to date diagnostics of genetic disorders for patients and their families. The laboratory is equipped with the latest technologies to perform various types of diagnostic services. In all the diagnostic services offered, a full diagnostic interpretation of clinically relevant variants is included. The laboratory has over 130 coworkers and performs >25000 tests and >6000 diagnostic exomes each year. Genome Diagnostics Nijmegen is part of the Department of Human Genetics of the Radboud university medical center and is based in the Netherlands.


Our laboratory provides:


  • An extensive portfolio of diagnostic genetic tests: our portfolio is continuously expanding by setting up tests for new genes and by implementing novel methods and approaches.
  • High quality: a team of expert clinical laboratory geneticists performs the interpretation of all test results and our laboratory performs all tests under strict quality requirements. Our laboratory has been accredited since 2004 and obtained the latest NEN-EN-ISO 15189:2012 certification


Our laboratory offers:



The diagnostic services are offered for >630 genetic disorders and >1100 genes. All the services include a full diagnostic interpretation of clinically relevant variants (click here for more information on interpretation and nomenclature of genetic variants). Details of our diagnostic services are described in the diagnostic services scheme.