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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
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