How is Wilson’s disease diagnosed?
Your child’s doctor can perform a variety of tests to measure the amounts of copper in your child’s body.
These can include:
- liver biopsy to determine the amount of copper in the liver
- urine analysis to look for high levels of copper in the urine
- blood tests to test for low levels of ceruloplasmin (copper protein) in the blood
- eye exam to look for Kayser-Fleischer rings
Your child’s doctor may also recommend genetic testing to determine whether other family members may be affected or may be carriers for the gene that causes Wilson's disease.