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Dyserythropoietic Anemia and Polymyopathy (DAMS) (Labrador Retriever)

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Test Overview:

Test breeding Labradors for the EHBP1L1 mutation. Avoid breeding two carriers to prevent affected offspring. Careful mating planning can reduce risk while maintaining breed diversity. Genetic counselling is advised to support breeders in decision-making

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

EHBP1L1

Variant Detected:

c.388C>T

Severity:

Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing can determine if a dog is a carrier for Dyserythropoietic Anemia and Polymyopathy (DAMS).

Research Citation(s):

Shelton, G.D., Minor, K.M., Guo, L.T., Thomas-Hollands, A., Walsh, K.A., Friedenberg, S.G., Cullen, J.N., Mickelson, J.R. : An EHPB1L1 nonsense mutation associated with congenital dyserythropoietic anemia and polymyopathy in Labrador Retriever littermates. Genes (Basel) 13:1427, 2022. Pubmed reference: 36011338

Associated Breed(s):

Australian Labradoodle , Cavador, Lab/Golden Cross, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever,

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