Wilson's Disease (main mutation H1069Q)

Gastroenterology

06.007

Wilson's Disease (main mutation H1069Q)

WND

Signs/symptoms:	Copper-associated liver cirrhosis
Complications:	Copper storage disease.
Early diagnosis/treatment:	Yes

Copper storage disease

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

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.

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Wilson's Disease (main mutation H1069Q)

Wilson's Disease (main mutation H1069Q)

WND

Material required:

ATPase, Cu(2+)-transporting, beta polypeptide

ATP7B

Gene regions tested:

Prices:

Switzerland:

References:

Browse Gene Tests

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