Use

The Invitae Wilson Disease Test is used to analyze pathogenic variants in the ATP7B gene, which can cause decreased biliary excretion of copper, reduced incorporation of copper into apoceruloplasmin, and the overall accumulation of copper in the body. This test helps confirm a diagnosis of Wilson disease, a disorder of copper metabolism. Affected individuals often exhibit symptoms such as liver disease, neurologic disease, psychiatric disturbances, and the eye finding of Kayser Fleischer rings. Early diagnosis can facilitate medical management with chelating agents and zinc, and indicate when liver transplantation is necessary.