P2RY12 bleeding disorder / platelet disorder (P2RY12-related) - Greater Swiss Mountain Dog

What does this test examine?

This genetic test analyses the P2RY12 variant c.516_518del in the Greater Swiss Mountain Dog. The condition is known as P2RY12 bleeding disorder / platelet disorder and related clinical names used for this disorder.

The tested P2RY12 deletion removes three bases in the platelet ADP receptor gene and disrupts normal platelet activation.

What does this condition mean?

Affected dogs often appear normal in daily life, but can bleed excessively and potentially severely after trauma, surgery or procedures because platelets respond poorly to ADP.

For breeders and owners, this type of DNA test is especially valuable because carriers can look healthy. Without DNA results, two carriers may be paired unintentionally and produce puppies with a serious disorder.

Inheritance and result

The trait is autosomal recessive. A clear dog does not carry the variant, a carrier has one copy and a dog with two copies is genetically affected for this tested form.

Practical value of this test

• The result shows whether the dog is clear, carrier or genetically affected for the tested variant.
• Breeders can identify carriers and avoid matings that can produce affected puppies.
• The test gives early certainty before sale, breeding use or mating plans.
• Carriers can remain in breeding responsibly when paired with clear partners, helping preserve genetic diversity.
• For this disorder, the result is also useful for recognising bleeding risk around procedures and trauma in the breed context.