Breeds Affected: Irish Red Setter

Samples Accepted: Blood, Buccal Swabs

Disease Information: Globoid Cell Leukodystrophy, also known as Krabbe Disease, is a lysosomal storage disease that causes progressive neurological disorders: problems walking, tremors, weakness, and eventually blindness and paralysis.  Symptoms are first seen before 6 months of age, and affected dogs are usually  humanely euthanized as the disease progresses.

Inheritance Information: Globoid Cell Leukodystrophy is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.

The possible genotypes are:

N/N  The dog is normal, and cannot produce affected offspring.

N/gcl  The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/gcl carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.

gcl/gcl  The dog is affected, and if bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/gcl carrier, 50% of the offspring will be carriers and 50% will be affected.

Recommendations:
– Carriers may be bred to normal animals (N/gcl x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.

– Breeding two carriers (N/gcl x N/gcl) is not recommended due to the possibility of 25% of the offspring being affected.

– Affected animals (gcl/gcl) should not be used for breeding.

Test Information: This test identifies a 78 base insertion in the GALC gene.

McGraw, RA., Carmichael, KP.: Molecular basis of globoid cell leukodystrophy in Irish setters. Vet J 171:370-2, 2006. Pubmed reference: 16490723. DOI: 10.1016/j.tvjl.2004.10.019

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: D194
Cost: 35 € (excl. VAT)
Time Required: 7-10 days