Figure 1.

Positive genetic findings according to pretest clinical diagnosis. (A) The frequency of positive genetic findings across 54 genes identified in 338 patients. A total of 362 positive findings were identified, which included 317 patients with a single gene finding, 18 patients with two gene findings, and three patients with three gene findings. (B) Diagnostic yield of positive genetic findings within each clinical kidney disease categorization provided by physicians at enrollment. Diagnostic yield was calculated as the proportion of patients within each category with a positive genetic finding. Note: No positive findings were identified in patients categorized with thrombotic microangiopathy; as such, this category is not represented graphically in analyses pertaining to patients with positive findings. (C) The distribution of the 362 positive genetic findings across the clinical kidney disease categories. Genes are grouped by broad kidney disease types and ordered by prevalence among the cohort: cystic/tubulointerstitial (blue), glomerular (green), tubulopathy/tubular (orange), CAKUT/structural (yellow), complement (purple).