What is the role of genetic testing in the evaluation of Wilson disease?

Updated: Feb 14, 2019
  • Author: Richard K Gilroy, MBBS, FRACP; Chief Editor: Praveen K Roy, MD, AGAF  more...
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First- and second-degree relatives of patients with confirmed Wilson disease must be screened for this condition. [2]

Linkage analysis has been used in family studies for presymptomatic testing; however, the multiplicity of mutations (>200 mutations of ATP7B have been identified) that require screening in individuals without affected family members is large, making such analysis impractical. Therefore, the use of molecular testing is currently limited to screening of family members for an identified mutation detected in the index patient.

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