Globoid cell leucodystrophy (Krabbe disease)

Disease

Globoidcell leucodystrophy is a lipid storage disorder with progressive degeneration of the white substance of the central nervous system (CNS). The disease is caused by a genetically caused lack of the enzyme galactocerebrosid betagalactosidase. This enzyme is responsible for the lysosomal metabolism of certain galactolipids. Due to the lack of enzyme, these lipids are deposited in the CNS particularly in the multi-nucleated giant cells (globoidcells).
The globoidcell leucodystrophy manifests itself in affected dogs at the age of 1-3 months, beginning with ataxia and paresis of the hind legs. During the progress of the disease, muscular atrophy and neurological degeneration oocur. Due to the lack treatment possibilities, the affected animals are usually euthanased after 10 months at the latest.

Breed

Cairn Terrier, Irish Setter and West Highland White Terrier

Trait of inheritance

autosomal-recessive

Test duration

1-2 weeks after arrival of the sample in the lab

Material

The DNA test is performed out of EDTA blood or buccal swabs. Required swabs can be ordered free of charge. (Buccal swab order-form). If a swab is sent in, possibly the genetic material is not sufficient to run the test. In this case it would be best to send in an EDTA blood sample.

Testing procedure

Please send in your sample together with the lab order genetic. Results will be transmitted optionally via post, fax or email. After completion of the test you will receive a separate invoice. Payment can be made via credit card or bank transfer.
Breeding club discounts apply if a copy of the membership card is sent together with the respective samples. Due to administrative reasons the invoiced price can not be altered subsequently.

Questiones?

Please contact our molecular biology team for further questions.

LABOKLIN GmbH und Co.KG
Steubenstraße 4
D-97688 Bad Kissingen

Telefon: +49 (0)971 72020
Fax: +49 (0)971 68546
E-Mail: info@labogen.com

Links

 back to genetic diseases

 back to list for breeds


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