If Wilson's disease is suspected, it is advisable to consult a doctor with experience of Wilson's disease. Typically, medical specialists use several procedures to make a definitive diagnosis.

• Laboratory chemistry tests:
  • Blood count,
  • Liver values,
  • Quick value,
  • Coeruloplasmin in serum,
  • Copper in serum

• Copper excretion in 24-hour urine collection
• Performance of a slit lamp examination in a specialised ophthalmological practice
• Ultrasound of the liver and spleen
• Liver biopsy with determination of hepatic copper if necessary
• Molecular genetic examination
• no longer used: Radiocopper test