Journal article
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study
Amali C Mallawaarachchi, Lindsay Fowles, Louise Wardrop, Alasdair Wood, Rosie O’Shea, Erik Biros, Trudie Harris, Stephen I Alexander, Simon Bodek, Neil Boudville, Jo Burke, Leslie Burnett, Sarah Casauria, Steve Chadban, Aron Chakera, Sam Crafter, Pei Dai, Paul De Fazio, Randall Faull, Andrew Honda Show all
Clinical Journal of the American Society of Nephrology | Ovid Technologies (Wolters Kluwer Health) | Published : 2024
Abstract
Background The cause of kidney failure is unknown in approximately 10% of patients with stage 5 chronic kidney disease (CKD). For those who first present to nephrology care with kidney failure, standard investigations of serology, imaging, urinalysis and kidney biopsy are limited differentiators of etiology. We aimed to determine the diagnostic utility of whole-genome sequencing (WGS) with analysis of a broad kidney gene panel in patients with kidney failure of unknown cause. Methods We prospectively recruited 100 participants who reached CKD stage 5 at 50 years of age and had an unknown cause of kidney failure after standard investigation. Clinically-accredited WGS was performed in this na..
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Grants
Awarded by National Health and Medical Research Council
Funding Acknowledgements
No Statement Available