CENTOGENE provides genetic testing and consultation for the most efficient diagnosis of inherited kidney-related diseases. Recent advances in genetic techniques provide many important insights into kidney disease diagnosis, classification, pathogenesis, and time-sensitive therapy options. Having identified genetic variants associated with nephrological diseases in more than 300 different genes, we can support you in providing your patients with rapid, effective genetic testing to get a clear understanding of their condition.
Articles on Nephrology
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood. The disease was first described by an English doctor named A. Cecil Alport.
Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). The clinical association of Pierson syndrome…