Abstract

Nephrology practices currently are amidst a genetics/genomics revolution where clinical molecular screening has transitioned from analysis of single genes (Sanger sequencing) to global approaches (next-generation sequencing). Two approaches are now generally employed in nephrology, exome sequencing (screening the coding regions of all genes) followed by analysis of genes known to be associated with monogenic kidney disease, or just screening those genes or a phenotypically distinct subset (e.g., cystic kidney disease or nephrolithiasis) via targeted gene panels (Table 1).

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