Table 1.

Diagnostic Yields of Genetic Testing for Developmental Brain Disorders (DBD)

DBD	Chromosomal Microarray*	Exome Sequencing*	Selected Relevant Publications	Comments
ID / Global Developmental Delay	15%	35%	Srivastava et al., 2019[6] Waggoner et al., 2018[9]	Numerous published studies; strong evidence for combined diagnostic yield approaching 50%
ASD	10%	15%	Srivastava et al., 2019[6] Waggoner et al., 2018[9]	Numerous published studies; strong evidence for combined diagnostic yield approaching 25%**
Epilepsy	8%	45% (23% for targeted epilepsy panels)	Sánchez-Fernández et al., 2019[10]	Wide range of diagnostic yields across study cohorts, depending on epilepsy phenotype and other factors**
Cerebral Palsy	10-31%	14-65%	Matthews et al., 2019[11] Corbett et al., 2018[12]	Relatively small studies with a mix of cohorts selected by motor phenotypes and comorbidities**
Schizophrenia	3-7%	<1% (single study[13])	Balakrishna and Curtis, 2020[13] Singh et al., 2018[14] Lowther et al., 2017[15]	Does not include several published ES studies aimed at gene discovery. The single ES study noted here examined only genes reported for neuropsychiatric phenotypes, possibly excluding other relevant DBD genes**

^*averaged across multiple published studies investigating diagnostic yield for each DBD

^**The comorbid presence and severity of ID affects yield across all other disorders