Hereditary renal disorders are a genetically heterogeneous group of conditions characterized by isolated proteinuria and hematuria with extrarenal features including alterations in sensorineural hearing and vision. The age of onset of renal disease ranges from neonatal to adult onset. Identification of the genetic etiology can aid in appropriate clinical management and is important for organ donor selection, pre-transplant planning, and post-transplant care. The correct clinical diagnosis is also important to avoid the risk of life-threatening toxicities with inappropriate therapy, for long-term surveillance and prognosis, and for identification of at-risk or affected family members.
The Hereditary Cystic and Glomerular Disorders panel utilizes next generation sequencing technology to detect sequence variant and deletions/duplication in over a hundred genes associated with renal cystogenesis and the structural and functional integrity of the glomerulus.
