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Dog DNA testing illustration

Mucopolysaccharidosis VI (MPS6) – Great Dane

Code: H981

74,72 €

Sample details

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

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
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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 VI (MPS VI), is caused by a recessive mutation to the gene ARSB, and is found in the Great Dane. Related variants also occur in the Miniature Poodle, Miniature Schnauzer and Miniature Pinscher.

Specifications

Breeds

Great Dane
Gene

ARSB
Chromosome

3
Mutation

c.295C>T
Organ

Respiratory System
Specimen

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

Autosomal Recessive
Also known as

MPS VI

Clinical features

Affected dogs present stunted growth around 4 months of age, splayed limbs, crooked/bowing leg bones, progressive muscle weakness and noisy breathing. The disease is progressive, and euthanasia may be necessary due to poor quality of life.

References

Pubmed ID: 29157190

Year published: 2018

Omia ID: 666

Omia variant ID:

Turnaround information

  • 15 working days