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  1. Optimizing genetic diagnostics in childhood neurological disease

Optimizing genetic diagnostics in childhood neurological disease

October 22, 2019

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.