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Article

A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases

17 Jan 2023

Abstract excerpt

SIGNIFICANCE STATEMENT: To optimize the diagnosis of genetic kidney disorders in a cost-effective manner, we developed a workflow based on referral criteria for in-person evaluation at a tertiary center, whole-exome sequencing, reverse phenotyping, and multidisciplinary board analysis. This workflow reached a diagnostic rate of 67%, with 48% confirming and 19% modifying the suspected clinical diagnosis. We...

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PMID: 36753701
DOI: 10.1681/asn.0000000000000076

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