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H418

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Mucopolysaccharidosis (MPS) is a class of metabolic disorders that typically cause severe neurological problems and other developmental issues. This variant of the disease, known as Mucopolysaccharidosis Type IIIA (MPS IIIA), or as Sanfilippo Syndrome, is found in the Dachshund. The variant is caused by a recessive mutation to the gene SGSH (sometimes called HSS). A closely related variant is also found in the New Zealand Huntaway Dog.

Clinical features

Affected dogs present at adulthood with slowly progressing spinocerebellar ataxia; a gradual loss of coordination, mainly in the limbs and head. Veterinary analysis can confirm the diagnosis with the presence of heparan sulfate in the urine.

Additional information

References

Pubmed ID: 10950929

Omia ID: 1309

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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