What genetic testing is currently available for wilson disease?

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