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Congenital Macrothrombocytopenia

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Test Overview:

Genetic testing to identify carriers and affected individuals. Avoid breeding two carriers to prevent affected offspring. Breed carriers only to clear dogs. Exclude affected dogs from breeding programs or breed responsibly with knowledge of genetic status.

Category:

Haemolymphatic - Associated with the blood and lymph

Gene:

Tubulin beta 1 class VI (TUBB1) on Chromosome 24

Variant Detected:

TUBB1 c.745G>A (p.D249N) in Cavalier King Charles Spaniels. TUBB1 c.5G>A (p.R2H) in Cairn Terriers.

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Recommended Screening:

Genetic testing of the TUBB1 gene will reliably determine if a dog is a genetic carrier of Congenital Macrothrombocytopenia

Research Citation(s):

Davis B, et al. Mutation in beta1-tubulin correlates with macrothrombocytopenia in Cavalier King Charles Spaniels. (2008) J Vet Intern Med 22(3); 540-545.

Associated Breed(s):

Australian Cobberdog, Australian Labradoodle , Bernardoodle, Cavador, Cavalier King Charles Spaniel, Cavoodle, Chihuahua, Goldendoodle, Labradoodle , Labradoodle Retrodoodle , Labrador Retriever, Miniature Poodle, Mixed Breed, Parson Russell Terrier, Standard Poodle, Toy Poodle,

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