Testing & Diagnosis for Wilson's Disease in Children

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Contact the Center for Childhood Liver Disease

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.

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Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337