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Dog DNA testing illustration

Mucopolysaccharidosis IIIa (MPS3a) – Dachshund

Code: H418

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

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

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.

Specifications

Breeds

Dachshund
Gene

SGSH
Chromosome

9
Mutation

c.737_739delCCA
Organ

Skeletal system
Specimen

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

Autosomal Recessive
Also known as

MPS IIIA

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.

References

Pubmed ID: 10950929

Year published: 2000

Omia ID: 1309

Omia variant ID:

Turnaround information

  • 15 working days