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Dog DNA testing illustration

Alexander Disease

Code: H389

74,72 €

Sample details

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

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Short description

Alexander Disease (AxD) is a severe, progressive neural disorder that results in loss of coordination, weak movement and ultimately death.

General information

Alexander Disease (AxD) is a severe, progressive neural disorder that results in loss of coordination, weak movement and ultimately death. AxD in the Labrador Retriever is caused by a dominant mutation to the gene GFAP.

Specifications

Breeds

Labrador Retriever
Gene

GFAP
Chromosome

9
Mutation

c.719G>A
Organ

Nervous System
Specimen

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

Autosomal Dominant
Also known as

AxD

Clinical features

Symptoms of AxD generally start in dogs under one year of age. Early signs can include a loss of coordination and balance, a head tilt, "knuckled" paws and an aversion to touch. The disease progresses to weakened limbs, and can also cause muscle atrophy and stiffness, regular jerks of the head and limbs, difficulty eating and an altered voice. AxD is ultimately fatal.

References

Pubmed ID: 26486469

Year published: 2016

Omia ID: 1208

Omia variant ID:

Turnaround information

  • 15 working days