Optimizing genetic diagnostics in childhood neurological disease

Diagnostic and clinical utility of clinical exome sequencing in children with moderate and severe global developmental delay / intellectual disability

Costs for genetic testing correlate with comprehensiveness of the tests applied. Clinical exome sequencing (CES) represents an intermediate-cost and intermediate-comprehensiveness option. In a recent study on 88 children that had been referred to CENTOGENE because of severe neurological phenotypes, CES was found to yield positive or potential diagnoses in >50% of cases. The finding was published in Journal of Child Neurology.