Algorithm for a germline ATP7B genetic test result interpretation in individual without signs or symptoms of Wilson disease

VUS: variant of uncertain significance.
* Ensure that the genetic testing is performed properly, the patient identification is correct, and the interpretation of pathogenicity is accurate based on the most recent data analysis.
¶ Pathogenic and likely pathogenic variants are treated the same for purposes of surveillance and risk reduction interventions; these interventions are independent of family history.
Δ VUS lack sufficient information from clinical and bench research to be classified as pathogenic or benign. Continue to seek updated interpretation of pathogenicity periodically (eg, annually).
◊ Wilson disease should be suspected in any patient with unexplained liver, neurologic, or psychiatric abnormalities or in a first-degree relative of a patient with Wilson disease.
§ In patients with suspected Wilson disease initial evaluation includes liver biochemical tests, a complete blood count, serum ceruloplasmin and copper levels, an ocular slit-lamp examination, and a 24-hour urinary copper excretion. The results of these tests determine the need for additional testing. Refer to related UTD content on the approach to the diagnosis of Wilson disease.