What genetic testing is currently available for Wilson disease?
The sequence analysis of ATP7B gene (Wilson disease gene) to identify the mutations is clinically available as a test. Although this is the most updated and thorough test, please be aware that some alterations such as large deletion or duplication may not be detected with this method. It is important that the biochemical testing must be performed prior to genetic tests. – Sihoun Hahn, M.D., Ph.D.
