Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

Fig. 1

Detection rates of different NGS approaches in the cohort of patients referred for SRS testing, and discrimination of the diagnostic yields between patients for whom the clinical score was applicable, and NH-CSS positive cases (NH-CSS ≥ 4 items) and patients without sufficient clinical data (for number see Additional file 4). Comparison of the detection rates between the multigene panel approach [7] with those obtained by WES approaches revealed a significant increase in patients with a positive NH-CSS score as we well as in patients for whom clinical scoring was not possible

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172