Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

ABSTRACT: Chronic kidney disease (CKD) has a genetic origin in 10% of patients. The most effective and cost-beneficial genetic testing methodology is debated. A multicenter, retrospective analysis of 692 patients with panel genetic testing (44 genes) evaluated the diagnostic yield, independent predictors of genetic diagnoses, and clinical impact. Diagnostic variants identified totaled 252, resulting in a 36% yield. The highest yields were associated with cystic disease (49%). No diagnostic variants were identified in unknown CKD. Independent clinical predictors of diagnosis were clinical presentation, family history, and early disease onset. Genetic diagnoses confirmed clinical suspicion in 70%, defined the diagnosis in 23%, and altered clinical diagnosis in 7%. Despite study limitations, a 44 gene

SUBMITTER: Giovanella S 

PROVIDER: S-EPMC12674980 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature