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Table 4 Comparison of diagnostic methods between mild and severity patients

From: Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes

 

Mild-moderate (N = 15)

Severe-profound (N = 50)

P value

WES

7 (46.7%)

30 (60.0%)

0.122

Panel

6 (40.0%)

19 (38%)

 

Sanger

2 (13.3%)

1 (2.0%)

 
  1. WES, whole exome sequencing; panel, targeted exome sequencing
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172