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

doi:10.1111/cge.70002

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

Clinical genetics - 1 Jan 2026

Giovanella Silvia, Poyatos-Andújar Antonio Miguel, Garcia Maria Mar Aguila, Avila-Fernandez Almudena, Bustamante-Aragonés Ana, Ayuso Carmen, Percesepe Antonio, Martorana Davide, Ferri Maria, Terracciano Alessandra, Massella Laura, Chester Johanna, Testa Francesca, Ligabue Giulia, Ferrarini Marco, Gibertoni Dino, Alfano Gaetano, Tenedini Elena, Artuso Lucia, Marino Marco, Calabrese Olga, Tagliafico Enrico, Magistroni Riccardo

Abstract excerpt

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...

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PMID: 40533884
DOI: 10.1111/cge.70002
PMCID: PMC12674980

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