A main goal is to accelerate and enhance the yield of genetic testing. Early molecular diagnosis enables timely interventions, personalized treatments, and better patient outcomes. To achieve this, we integrate advanced techniques like long-read DNA sequencing, methylation analysis, and RNA sequencing into routine diagnostics.

Additionally, the Precision Diagnostics Outpatient Clinic has been established to diagnose individuals with neurodevelopmental disorders strongly suspected to have a genetic cause, and where conventional diagnostics failed to identify a molecular basis. A multidisciplinary approach, combined with multi-omics strategies, allows us to uncover novel genes and disease mechanisms, advancing both diagnosis and treatment.