Wilson disease (WD) is an autosomal recessive inherited disorder characterized by the toxic accumulation of copper in various organs including the liver, the cornea and the brain, causing damage therein. The disorder usually manifests in the second decade of life and the hepatic form usually appears earlier than the neurological form. Wilson disease is caused by mutations in the ATP7B gene.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
For further information:
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease
Gojova L, Jansova E, Külm M, Pouchla S, Kozak L.
Clin Genet. 2008 May; 73(5): 441- 521.