What genetic testing is currently available for wilson disease?

ATP7B gene: Initial screens include levels of ceruloplasmin and copper in the blood, but a liver biopsy is usually required. Once that is "positive, " then a mutation analysis of the atp7b gene, along with other genes linked to copper accumulation in the liver, can be performed.

Mutation analysis: Wilson disease is caused by mutations in the atp7b gene. This gene codes for a protein called copper-transporting atpase 2. Typical inheritance is autosomal recessive, meaning you must have an abnormal copy of the gene from each parent. Genetic testing is available.

ATP7B: This is routine and is available upon request from the major gene labs.