Exome sequencing in children and adolescents with rare diseases Current situation, challenges, perspectives

The majority of the more than 8000 currently known "rare diseases" (orphan diseases) have an onset in infancy or childhood. Diagnosis at this age can be challenging because the symptoms are frequently nonspecific and/or overlapping. The new genetic method of next generation sequencing (NGS) is a noninvasive diagnostic tool that in many cases enables the rapid and reliable clarification of monogenetic diseases. For the meaningful use of NGS, it is important to know the technical and methodological limitations of this method, to be aware of the challenges of variant assessment and to keep an eye on the perspectives of genetic diagnostics for the clinical management of patients.