ATP7B Gene Mutations

Description

ATP7B Gene Mutation Testing is a genetic test used to identify pathogenic variants in the ATP7B gene, which plays an important role in copper transport and metabolism. Mutations in the ATP7B gene are the primary genetic cause of Wilson disease, an inherited disorder that can result in abnormal copper accumulation in the liver, brain and other tissues. ATP7B genetic testing may support the diagnosis of suspected Wilson disease and can also be useful in appropriate family or genetic evaluations. Results should be interpreted by a qualified healthcare professional alongside clinical and biochemical findings.