A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies

Traditional strategies for determining the precise genetic cause of kidney disease are costly and time consuming. However, recent advances in high-throughput sequencing have dramatically decreased the cost, time, and labor involved. With new data emerging about the role of genetics in kidney disease, realizing the era of personalized and precision medicine will require a precise diagnosis and identification of the underlying molecular pathogenesis.1,2 We describe a project to design and validate a next-generation sequencing (NGS) panel for the full spectrum of genetic nephropathies in a CLIA-approved laboratory and to test it in a series of kidney biopsies with unknown molecular pathogenesis.