Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders.

摘要: Purpose: Clinical geneticists are often asked to evaluate patients with autism spectrum disorders (ASDs) in reference questions about cause and recurrence risk. Recent advances diagnostic testing technology have greatly increased the options available them. It is not currently clear what overall yield of a battery tests, either collectively or individually, might be. The purpose this study was stepwise approach we implemented our clinics. Methods: We used three-tiered neurogenetic evaluation scheme designed determine ASDs referred for clinical genetic consultation. reviewed results evaluations on all confirmed diagnosis over 3-year period. Results: By using approach, found an more than 40%. This represents significant increase reported just few years ago. Conclusions: Given implications these diagnoses risk associated medical conditions, targeted persons seems warranted. discuss issues future implementation fourth tier potential even higher yield.