Printer-friendly version

Wilson's Disease (main mutation H1069Q)

Metabolism 01.016

Wilson's Disease (main mutation H1069Q)

WND
Signs/symptoms: Copper-associated liver cirrhosis
Complications: Copper storage disease.
Early diagnosis/treatment: Yes
Intracellular hepatic copper with subsequent hepatic and neurologic abnormalities

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: Yes
Chromosomal localization: 13q14.3-q21.1 OMIM number: 606882

ATPase, Cu(2+)-transporting, beta polypeptide (main mutation H1069Q)

ATP7B

Gene regions tested:
Gene regions:
Amino acid positions: H1069Q
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8819.01 8810.21
  TP REVAL: 200 TP Value: 0.9 CHF 180.00
Other europe: EUR 150.00
Other regions: USD call

References:
Ha-Hao, D.; Hefter, H.; Stremmel, W.; Castaneda-Guillot, C.; Hernandez, A. H.; Cox, D. W.; Auburger, G. His1069-to-gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype. Europ. J. Hum. Genet. 6: 616-623, 1998.

Browse Gene Tests

To view all our gene tests, please visit our Test Menu.