Article
The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project.
Journal of nephrology - 1 Jul 2022
Elhassan Elhussein A E, Murray Susan L, Connaughton Dervla M, Kennedy Claire, Cormican Sarah, Cowhig Cliona, Stapleton Caragh, Little Mark A, Kidd Kendrah, Bleyer Anthony J, Živná Martina, Kmoch Stanislav, Fennelly Neil K, Doyle Brendan, Dorman Anthony, Griffin Matthew D, Casserly Liam, Harris Peter C, Hildebrandt Friedhelm, Cavalleri Gianpiero L, Benson Katherine A, Conlon Peter J
Abstract excerpt
BACKGROUND AND AIMS: Genetic testing presents a unique opportunity for diagnosis and management of genetic kidney diseases (GKD). Here, we describe the clinical utility and valuable impact of a specialized GKD clinic, which uses a variety of genomic sequencing strategies. METHODS: In this prospective cohort study, we undertook genetic testing in adults with suspected GKD according to prespecified criteria. Over 7...
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