The Disease
Globoid cell leukodystrophy or Krabbe disease is a severe, autosomal recessive dirsorder resulting from a deficiency of galactocerebrosidase (GALC) activity whereby the white matter is degenerated. Clinically, the symptoms appear between the 1st and 3rd months of age. Weakness of the limbs and tremors appear first, followed by muscular atrophy and neurological degeneration. The affected dogs may live until 8 or 9 months of age, when the symptoms become so severe that the dog is usually euthanized. Pathological studies of the white matter from affected dogs show characteristic globoid cells and loss of myelin.

The Trait of Inheritance
Globoid Cell Leukodystrophy (Krabbe) in West Highland White and Cairn Terriers is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.

The mutation-based gene test and its advantages
Progress in molecular genetics has allowed the identification of the gene mutation responsible for Globoid Cell Leukodystrophy (Krabbe) in West Highland White and Cairn Terriers.
By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.
If a particularly valuable dog turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.

Requirements
The tests are performed out of  EDTA whole blood (1 ml). Testing is performed a few times per week at Laboklin. The results are due about one week after arrival of the sample in our laboratory.