Which genetic tests are performed in the diagnosis 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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Answer

Mutation analysis is an especially valuable diagnostic strategy for certain well-defined populations exhibiting a limited spectrum of ATP7B mutations. Pedigree analysis using haplotypes based on polymorphisms surrounding the the ATP7B gene are also commercially available from specific clinical laboratories. [10]


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