A member asked:

How do you detect wilson's disease?

3 doctors weighed in across 2 answers

Wilson's disease: The diagnosis of wilson's disease is based upon the clinical setting combined with compatible biochemical (serum ceruloplasmin concentration), histologic (evidence from liver tissue biopsy) and physical findings (such as deposits of copper in a certain part of the cornea).

Answered 8/30/2012

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Screen: I suggest a urine copper if there is reason to believe it is present, or if there's strong evidence, go right to the ATP7B gene for sequencing.

Answered 8/9/2014

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