Asper Nephrology offers gene panels for the diagnostics of hereditary renal diseases, including common monogenic diseases such as polycystic kidney disease, as well as complex disorders. To establish the genetic cause of renal diseases we use next-generation sequencing technology to accommodate a broad differential diagnosis. CNV analysis based on sequencing data is also available to enhance gene identification. Pathogenic/likely pathogenic findings are confirmed using additional technologies.
Accurate diagnosis of the precise genetic cause of the renal disorder is essential for genetic counseling and prediction of risks for affected individuals; furthermore, it allows prenatal diagnosis or pre-implantation genetic diagnosis.