Groopman EE, et al. - Since exome sequencing in some clinical disciplines is emerging as a first-line diagnostic method, researchers investigated its usefulness for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally. Exome sequencing and diagnostic analysis were conducted in two cohorts of 3,315 patients with chronic kidney disease. In all clinically defined categories, including congenital or cystic renal disease and nephropathy of unknown origin, diagnostic variants have been detected. According to findings, exome sequencing in a combined cohort of over 3000 patients with chronic kidney disease resulted in a genetic diagnosis in just under 10% of cases.