Not perfect: Tests are not perfect but in the clinical setting where wilson disease is suspected, serum ceruloplasmin and serum copper levels may be helpful. Also, if the eye shows a kayser-fleicher ring or sunflower cataract, that would be indicative of possible wilson disease.
Answered 7/3/2012
5.8k views
It depends: Serum ceruloplasmin is often used and it is a poor choice as it misses about 30% of cases. Urine copper is my choice. If there's a family history or the diagnosis seems obvious, or urine copper is high, test the ATP7B gene.
Answered 8/9/2014
3.8k views
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