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Dyserythropoietic Anemia and Polymyopathy (DAMS) (Labrador Retriever)

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Test Overview:

Dyserythropoietic Anemia is characterised by red blood cell development defect in the bone marrow. Myopathy Syndrome is a disorder that results from a defect in muscle fibres. Symptoms can include muscle weakness, regurgitation, muscle pain, difficulties chewing and swallowing, heart enlargement, anaemia and fatigue. Further disease complications may consists of diarrhea, pneumonia, seizures and possibly death. In other cases, euthanasia is necessary due to poor health.

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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