2 doctors weighed in:
What are the tests for wilson disease?
2 doctors weighed in

Dr. Ed Friedlander
Pathology
In brief: 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.

In brief: 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.
Dr. Ed Friedlander
Dr. Ed Friedlander
Thank
Dr. Pierre Moeser
Internal Medicine - Rheumatology
In brief: 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.

In brief: 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.
Dr. Pierre Moeser
Dr. Pierre Moeser
Thank
Read more answers from doctors