Criteria for Diagnosis of Wilson’s Disease

Clinical history	
Physical examination 	
Familial history		-	other relatives affected by Wilson’s disease	
Laboratory tests	-	serum ceruloplasmin <20 mg/dl
									-	urine 24-hour copper excretion >25mol after 																		penicillamine challenge (500 mg orally)
									-	incorporation of 64Cu into ceruloplasmin (absence of 														the normal rise in serum copper after 4 hours)	
Liver biopsy			-	hepatic copper content >250g/g dry weight	
Genetic diagnosis	-	evaluation of DNA markers (RFLP) in the 13q14-																13q21 regions of chromosome 13