A small number of specialist laboratories have developed molecular diagnostic tests for Wilson disease. As a part of the EuroWilson project, these laboratories have formed a network in which there is collaboration and a quality assurance scheme www.emqn.org. Techniques have rapidly improved, and there are now rapid methods for detecting the common mutations. Rapid sequencing has also made it much easier to detect less common or previously unknown mutations.
Consideration will also be given to the availability of facilities for liver copper assay and its quality assurance.
List of laboratories registered to the 2008 Wilson's disease EMQN:
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