Review
Copyright ©The Author(s) 2023.
World J Hepatol. Oct 27, 2023; 15(10): 1109-1126
Published online Oct 27, 2023. doi: 10.4254/wjh.v15.i10.1109
Table 2 Diagnostic tests for suspected Wilson disease patients and asymptomatic siblings
Parameters
Tests for suspected patients
Tests for asymptomatic siblings
Clinical examinationYesYes
Liver function testYesYes
Slit lamp examination for Kayser–Fleischer ringYesYes
Serum ceruloplasminYesYes
24 h urine copperYesYes
Genetic analysis for ATP7B gene mutation analysisYes, if feasibleYes (if proband sample is available)
Liver biopsyYes, ancillary testNo
Hepatic copperYes, to be done in cases of ambiguityNo