Polycystic Kidney Disease (PKD) is an inherited multisystemic and progressive disorder characterized by cyst formation and enlargement of the kidneys and other organs. Cysts are noncancerous round sacs containing fluid. These cysts eventually deteriorate renal anatomy and physiology causing them to lose function over time. Polycystic kidney disease is classified into two distinct disorders based on the inheritance pattern: autosomal dominant PKD (ADPKD) and autosomal recessive PKF (ARPKD). ARPKD is the most aggressive form and presents with severe pulmonary insufficiency and progressive renal failure with early onset during infancy. If left untreated, ARPKD is lethal before adolescence. ADPKD usually manifests during adulthood and is the most common inherited cause of chronic kidney disease. Cystic kidneys are common causes of end-stage renal disease, both in children and adults.
The Igenomix Polycystic Kidney Disease Precision Panel can be used to make a directed and accurate differential diagnosis of renal cysts ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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