Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients
with rare genetic disorders. However, standards addressing the definition and deployment …

About 37 million people in the United States have chronic kidney disease, a disease that
encompasses multiple causes. About 10% or more of kidney diseases in adults and as …

Purpose To assess the relative cost-effectiveness of genomic testing compared with
standard non-genomic diagnostic investigations in patients with suspected monogenic …

Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …

Chronic kidney disease (CKD) is a major healthcare issue worldwide. However, the
prevalence of pediatric CKD has never been systematically assessed and consistent …

Kidney tubules are responsible for the preservation of fluid, electrolyte and acid-base
homeostasis via passive and active mechanisms. These physiological processes can be …

The use of next-generation sequencing technologies such as exome and genome
sequencing in research and clinical care has transformed our understanding of the …

Background: Clinical and pathological confirmation of the diagnosis for chronic kidney
disease (CKD) has limitations, with up to one-third of individuals remaining without a formal …

Nephrology practices currently are amidst a genetics/genomics revolution where clinical
molecular screening has transitioned from analysis of single genes (Sanger sequencing) to …