Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol

Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol

Abstract Background Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adult...

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Main Authors: Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Nephrology
Subjects:
Study protocol
Genetic kidney disease
Undiagnosed patients
Re-analysis
Advanced genomic testing
Diagnostic yield
Online Access:https://doi.org/10.1186/s12882-024-03926-y
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