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Breeds Affected: English Springer Spaniel

Samples Accepted: Blood, Buccal Swabs

Disease Information:Alpha Fucosidosis is a lysosomal storage disease that causes neurological disorders: problems walking, temperament change, the loss of learned behaviours, blindness, and eventually muscle wasting.  Affected dogs usually die or are humanely euthanized by 4 years of age.

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

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

Recommendations:
– Carriers may be bred to normal animals (N/af 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/af x N/af) is not recommended due to the possibility of 25% of the offspring being affected.

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

Test Information: This test identifies a 14 base deletion in exon 1 of the FUCA1 gene.

Skelly, B.J., Sargan, D.R., Herrtage, M.E., Winchester, B.G.: The molecular defect underlying canine fucosidosis. Journal of Medical Genetics 33:284-288, 1996. Pubmed reference: 8730282

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

Test #: D192

Cost: 35 € (excl. VAT)

Time Required: 7-10 days

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