Background According to data from large national registries, almost 20%–25% of patients
with end-stage kidney disease have an undetermined kidney disease (UKD). Recent data …

Introduction Previous studies have suggested that genetic kidney diseases in adults are
often overlooked, representing up to 10% of all cases of chronic kidney disease (CKD). We …

Introduction Exome sequencing (ES) has widened the field of nephrogenomics in adult
nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we …

Rationale & Objective The etiology of kidney disease remains unknown in many individuals
with chronic kidney disease (CKD). We created the Mayo Clinic Nephrology Genomics …

Background Next-generation sequencing (NGS) is a useful tool for evaluating patients with
suspected genetic kidney disease. Clinical practice relies on the use of targeted gene …

Background A considerable minority of patients on waiting lists for kidney transplantation
either have no diagnosis (and fall into the subset of undiagnosed cases) because kidney …

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 …

Determining the etiology of end-stage renal disease (ESRD) constitutes a great challenge in
the context of renal transplantation. Evidence is lacking on the genetic findings for adult …

Background Whole-exome sequencing (WES) increases the diagnostic rate of genetic
kidney disorders, but accessibility, interpretation of results, and costs limit use in daily …

Background Exome sequencing is emerging as a first-line diagnostic method in some
clinical disciplines, but its usefulness has yet to be examined for most constitutional …