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Dog DNA testing illustration

Muscular Dystrophy-Dystroglycanopathy (MDD) – Labrador Retriever

Code: H688

74,72 €

Sample details

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

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Short description

Muscular dystrophy-dystroglycanopathy (MDD) is a severe muscle disorder that causes weakness, stunted growth and often death.

General information

Muscular dystrophy-dystroglycanopathy (MDD) is a severe muscle disorder that causes weakness, stunted growth and often death. This variant, found in the Labrador Retriever, is caused by a recessive mutation to the gene LARGE1.

Specifications

Breeds

Labrador Retriever
Gene

LARGE1
Chromosome

10
Mutation

c.1363C>T
Organ

Muscles
Specimen

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

Autosomal Recessive

Clinical features

Affected puppies present with difficulty suckling, general weakness, poor weight gain (often weighing half as much as healthy littermates) and a bow-legged stance. The puppies may die within the first weeks of life, or are otherwise typically euthanized on humane grounds due to poor quality of life.

References

Pubmed ID: 34654610

Year published: 2021

Omia ID: 2460

Omia variant ID:

Turnaround information

  • 15 working days