Table 1.

Results of five large, retrospective case studies of the diagnostic rate of genome or exome sequencing in children with suspected genetic diseases, particularly neurodevelopmental disabilities

Reference	Number of subjects	Disease	Age in years (mean or median)	Diagnosis rate	De novo mutation	Management changed by diagnosis
[9]	100	NDD	7	47 %	51 %	49 %
[10]	78	NDD	9	41 %	56 %	100 %
[11]	1756	Any	6	27 %	49 %	Not examined
[12]	520	Any	<18	26 %	50 %	Not examined
[13]	1133	NDD	6	27 %	62 %	Not examined