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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

From: Emergency medical genomes: a breakthrough application of precision medicine

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