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Fucosidosis


Description



Canine Fucosidosis is an autosomal recessive disorder found in English Springer Spaniels that affects the dog's ability to produce the enzyme alpha-fucosidase. This enzyme deficiency prohibits the normal break down and metabolism of complex polysaccharides from within the cells. Instead, these compounds build up in the cells, and diminish the cell's ability to function properly. Accumulation of these compounds in the brain and nervous systems give rise to the outward signs of the disease.

The disorder affects dogs between 18 months and 4 years of age. Clinically, the disease is characterized by a decrease in central nervous system functions. Signs can include loss of learned behavior, change in temperament, blindness, loss of balance, deafness, and weight loss. From the onset of symptoms, the disease will progress quickly and is fatal.

Because Fucosidosis is a recessive disorder, the dog must have two copies of the defective gene, one from each parent, to suffer from the disease. A dog that carries one copy of the mutation does not exhibit any symptoms, however, they can still pass on a copy of the mutation to any offspring. If two carries dogs produce a litter of puppies, each pup has a 25% chance of being affected by Fucosidosis.


Canine Cystinuria Testing

Animal Genetics offers DNA testing and detection of the gene mutation responsible for Fucosidosis in the English Springer Spaniel breed.


Cost

$45.00 US per sample.


Sample Collection

Collect sample using buccal swabs provided by Animal Genetics. Ensure that the dog has not eaten within a few hours of sample collection. Any food particles can inhibit the test. Rub each of the swabs along the inside of the dog's mouth for 10-15 seconds, and allow the swabs to dry thoroughly. Label the provided envelope with the dog's name, and place the swab inside it. Download and complete a submission form for each sample and send along with payment to Animal Genetics for testing.


Results

Results are given using the following symbolic notation:

FC/FC
AFFECTED: The dog carries two copies of the mutant gene and is homozygous for Fucosidosis. The dog is affected by Canine Fucosidosis, and will always pass on a copy of the mutation to any offspring.
n/FC
CARRIER: Both the normal and mutant copies of the gene detected. The dog is a carrier for Canine Fucosidosis, and can pass on a copy of the mutated gene to any offspring.
n/n
CLEAR: Tested negative for the Fucosidosis mutation.

 


Animal Genetics, Inc.
1336 Timberlane Rd - Tallahassee, FL 32312
Toll Free: 866-922-6436

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