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Genetic Testing: Sensitivity and Specificity

Introduction: None written. Excerpt from the entry in Wilson's Disease:
Autosomal recessive. Note that heterozygotes may have abnormal serum ceruloplasmin. Screening is possible only in populations with a small set of mutations (or in a family if the mutation has been identified). Gene is ATP7, an ATP-dependent Cu transporter.

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Associated Diagnoses:

Wilson's Disease

Accuracy not specified