3 doctors weighed in:

How do you detect wilson's disease?

3 doctors weighed in
Dr. Michael Ekizian
Internal Medicine
1 doctor agrees

In brief: 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).

In brief: 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).
Dr. Michael Ekizian
Dr. Michael Ekizian
Thank
Dr. Ed Friedlander
Pathology

In brief: 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.

In brief: 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.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
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