TABLE 2.
New Diagnostic Tools
| Parameter | Description | WD Diagnosis |
|---|---|---|
| Radioactive copper (64Cu) ratio | 64Cu infused intravenously and measured within the liver and serum after 2, 24, and 48 hours 14 | |
| 24 hours/2 hours | <0.3 | |
| 48 hours/2 hours | <0.395 14 | |
| Genetic analysis | Polymerase chain reaction amplification of ATP7B mutations | Disease‐causing mutations |
| Whole‐genome sequencing: assesses all liver disease genes, not just WD | ||
| REC | Serum assay. REC = exchangeable copper/serum copper | >2.08 μmol/L for extrahepatic disease |
| >1.53 μmol/L for hepatic disease | ||
| Normal range: 0.62 and 1.15 µmol/L 15 |