Figure 2.

Classification of clinical diagnosis with the application of genetic data. Diagnostic utility of the molecular findings was assessed in the context of each patient's clinical diagnosis and medical history. (A) Breakdown of diagnostic effect of genetic findings among 338 positive patients. Confirm (n=115) 34.0%; diagnose (n=104) 30.8%; diagnose, partial (n=53) 15.7%; at risk (n=58) 17.2%; reclassify (n=8) 2.4%; of cases. Patients were designated at-risk if there were insufficient data provided to support classification into a diagnose or reclassify category. APOL1 high-risk genotypes were categorized as diagnose, partial, or at risk. For patients with more than one positive finding, classification was assessed based on the presumed primary driver of disease. (B) Diagnostic utility classifications stratified by pretest clinical kidney disease categorization.