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Dog DNA testing illustration

Spinocerebellar Ataxia (SCA) – Alpine Dachsbracke

Code: H683

74,72 €

Sample details

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

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Short description

Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination.

General information

Spinocerebellar Ataxia (SCA) is a category of often severe neural disorders that cause a loss of physical coordination. This variant of the disease, known simply as Spinocerebellar Ataxia 2 (SCA2), is found in the Alpine Dachsbracke. It is caused by a recessive mutation to the gene SCN8A.

Specifications

Breeds

Alpine Dachsbracke
Gene

SCN8A
Chromosome

27
Mutation

c.4898G>T
Organ

Nervous System
Specimen

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

Autosomal Recessive
Also known as

SCA

Clinical features

Signs of cerebellar dysfunction become apparent in affected puppies at approximately three weeks of age. Symptoms include ataxia (loss of physical coordination), loss of balance, tremors, falling and impaired vision. The disease is severe, and euthanasia on humane grounds is typically necessary by the age of 12 weeks.

References

Pubmed ID: 31083464

Year published: 2019

Omia ID: 2194

Omia variant ID:

Turnaround information

  • 15 working days