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Dog DNA testing illustration

Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) – English Springer Spaniel

Code: H997

74,72 €

Sample details

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

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Short description

Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs.

General information

Dyserythropoietic Anaemia and Myopathy Syndrome (DAMS) is a severe blood and muscle disorder in dogs. The disorder causes muscle atrophy, anaemia, heart defects, and may result in the death of affected puppies. It is caused by a recessive mutation to the gene EHBP1L1, and is found in the English Springer Spaniel. A closely related variant of the disorder occurs in the Labrador Retriever.

Specifications

Breeds

English Springer Spaniel
Gene

EHBP1L1
Chromosome

18
Mutation

c.3120delC
Organ

Cardiovascular System
Specimen

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

Autosomal Recessive
Also known as

DAMS

Clinical features

Affected puppies may die at or around birth. Surviving affected dogs have stunted growth compared to healthy littermates, with less musculature, exercise intolerance and general weakness. Further symptoms can include vomiting, difficulty eating or drinking, chronic diarrhoea, and seizures. Euthanasia may be necessary due to poor quality of life.

References

Pubmed ID: 36140701

Year published: 2022

Omia ID: 2564

Omia variant ID:

Turnaround information

  • 15 working days