Description: Scott syndrome is an inherited blood clotting disorder. The cause of the disease is a deficiency of blood platelets that are unable to fulfill their function. In affected dogs, the activation of the coagulation cascade is disturbed, which results in the formation of aggregates in places of vascular damage. Assembly of coagulation complexes creating thrombin is ensured by activated platelets. The lack of procoagulant activity of the blood is associated with a reduced activity of their prothrombinase, which is caused by the g.8912219 G>A mutation in the gene TMEM16F (known as ANO6) encoding anoctamine 6. Among the manifestations of the disease are a higher incidence of bruising, the formation of postoperative bruises, bleeding associated with surgical procedures, but also spontaneous bleeding from the nose, bleeding in the joints, soft tissues, or extraordinary bleeding from the gums during teething.
Inheritance: autosomal recessive
Mutation: splicing mutation c.1934+1G>A (g.8912219C>T) in ANO6 (or TMEM16F) gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: German Shepherd Dog
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