1st-order laboratory parameters-obligatory laboratory tests.
- Complete blood count [anemia (anemia); leukocytopenia (decreased number of white blood cells (leukocytes) in the blood compared with the norm); thrombocytopenia (decreased number of platelets (thrombocytes) in the blood compared with the norm)]
- Inflammatory parameters – CRP (C-reactive protein).
- Liver parameters – alanine aminotransferase (ALT, GPT), aspartate aminotransferase (AST, GOT), glutamate dehydrogenase (GLDH) and gamma-glutamyl transferase (gamma-GT, GGT), alkaline phosphatase, bilirubin [ALT > AST; bilirubin ↑ if necessary].
- Renal parameters – urea, creatinine, cystatin C or creatinine clearance, if necessary.
- Coagulation parameters – PTT, Quick
- Serum coeruloplasmin [↓; < 20 mg/dl], total copper, free copper (obsolete as a diagnostic) [↓], copper excretion in 24-hour urine [renal copper elimination ↑; > 100 µg/24 h].
- Molecular genetic testing including family screening (all siblings and children).
- The responsible defect lies in mutations in the ATP7B gene on chromosome 13 (13q14.3). The H1069Q mutation is the most common in Europe, about 40% of cases).
Laboratory parameters 2nd order – depending on the results of the history, physical examination and obligatory laboratory parameters – for differential diagnostic clarification.
- Liver puncture (liver biopsy) with rhodamine staining [steatosis/fatty liver or focal hepatocellular necrosis/death of liver cells; often fibrotic or cirrhotic remodeling].
- D-penicillamine load test – in unclear cases, especially in children [urine copper excretion in penicillamine test: > 1,600 µg/24 h or > 25 µmol/24 h]
- Intravenous radiocopper test
