Wilson Disease
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.
It is extremely important to diagnose WD and to start an effective course of treatment, because WD is lethal if left untreated.
The microarray-based genetic test has been developed for screening 97 mutations from ATP7B gene.
Molecular studies allow to confirm the diagnosis on the molecular level and provide genetic counseling for the family. The test is available both with genotyping service (includes genotyping, electronical copy of the results report) and diagnostic package service (includes DNA extraction, genotyping, additional validation of the APEX-based analysis findings by dideoxy sequencing, interpretation, hard copy of the results report).
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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.
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