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Dog DNA testing illustration

Hereditary Ataxia (RAB24-related) – Old English Sheepdog and Gordon Setter

Code: H653

74,72 €

Sample details

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

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Short description

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination.

General information

Cerebellar Ataxia is a category of often severe neural disorders that cause a loss of physial coordination. The variant of the disorder analysed in this test is found in the Gordon Setter and Old English Sheepdog. It is caused by a recessive mutation to the gene RAB24.

Specifications

Breeds

Gordon Setter, Old English Sheepdog
Gene

RAB24
Chromosome

4
Mutation

c.113A>C
Organ

Nervous System
Specimen

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

Autosomal Recessive

Clinical features

The clinical phenotype is identical in both breeds with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI).

References

Pubmed ID: 24516392

Year published: 2014

Omia ID: 1913

Omia variant ID:

Turnaround information

  • 15 working days