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H736

Alpha Fuscidosis is a severe metabolic disease that occurs in the English Springer Spaniel, causing a loss of physical and mental abilities.

10 working days

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

General information

Alpha Fuscidosis is a severe metabolic disease that occurs in the English Springer Spaniel, causing a loss of physical and mental abilities. The disease is caused by a recessive mutation to the gene FUCA1.

Clinical features

Affected puppies appear normal until the age of approximately 4 to 6 months, when behavioral issues become apparent. Symptoms include progressive ataxia (loss of physical coordination), difficulty swallowing, a hoarse voice, loss of learned behaviour, change in temperament, muscle wasting, and impaired vision. The disease is progressive, and typically requires euthanasia on humane grounds by the age of 4 years.

Bone marrow transplantation has been noted to slow the progress of symptoms and decrease their severity if performed at an early age.

Additional information

References

Pubmed ID: 8730282

Omia ID: 396

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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