Wilson Disease targeted mutation analysis

Genes: ATP7B

No of
detectable
markers:
117

Lab method: DNA microarray (APEX – Arrayed Primer EXtension)

Price / TAT: 316 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 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.


Ordering information: Go to online ordering or download sample submission form

ATP7B gene sequencing

Genes: ATP7B

Lab method: Sanger sequencing

Price / TAT: 773 EUR / 2-4 weeks

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.


Ordering information: Go to online ordering or download sample submission form

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.

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.