Wilson Disease
Sequencing of the ATP7B gene
Genes
(full coding
region): |
ATP7B |
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
2,3 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
Deletion/duplication analysis of the ATP7B gene
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. |
p.H1069Q (c.3207C>A p.His1069Gln) gene mutation analysis
| Genes: |
ATP7B p.H1069Q (c.3207C>A p.His1069Gln) |
| Lab method: |
Sanger sequencing |
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker. DNA must be stored at room temperature or refrigerated. |
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
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.
