Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Diagnostic confirmation of Wilson disease
Ceruloplasmin, serum copper, and urine copper studies are recommended prior to submitting sample. Test includes next-generation sequencing of exons 1 through 21 and for the common Sardinian promoter mutation. Sanger sequencing may be performed to confirm detected variants.
See Wilson Disease Testing Algorithm in Special Instructions.
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate