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€57,48 €47,50 excl. VAT

H983

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 I (MPS I) or Hurler Syndrome, is caused by a recessive mutation to the gene IDUA. The specific mutation analysed in this test is found in the Plott Hound. Related variants also occur in the Boston Terrier and Golden Retriever.

Clinical features

Affected puppies present with severely stunted growth, cloudy eyes, loss of vision and progressive lameness. Other symptoms can include joint disease and a long, protruding tongue.

Additional information

References

Pubmed ID: 1339393

Omia ID: 664

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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