Diagnosis of Wilson's disease can be challenging as symptoms mimic other diseases and may gradually appear over time. Symptoms of Wilson's disease can arise as early as childhood and vary depending on which area of your body is affected. It is important to diagnose Wilson's disease early before the condition leads to life-threatening illness.
There is no single test for diagnosing Wilson's disease; rather, Mayo Clinic doctors evaluate your symptoms along with diagnostic testing to make a diagnosis.
Diagnostic tests for Wilson's disease may include:
If you have been diagnosed with Wilson's disease, genetic screening is recommended for your family members to identify the presence of abnormal genes and, if needed, to begin treatment before any debilitating symptoms arise. Mayo Clinic offers genetic screening tests for Wilson's disease.