Glanzmann thrombasthenia type 2 / GT2 (ITGA2B-related) - Pyrenean Mountain Dog

What does this test examine?

This genetic test analyses the ITGA2B variant c.1360_1373dup for Glanzmann thrombasthenia type 2 in the Pyrenean Mountain Dog. The condition is also known as GT, thrombasthenia and an inherited platelet function disorder. The test determines whether the dog carries zero, one or two copies of the tested variant.

What does this condition mean?

ITGA2B encodes part of the platelet complex that helps platelets aggregate when a blood vessel is damaged. In Glanzmann thrombasthenia, platelet count can be normal while platelet function is defective. Affected dogs may show bleeding gums, nosebleeds, bruising and prolonged bleeding after trauma, surgery or oestrus. DNA testing is useful because genetic risk cannot be read reliably from appearance or general fitness.

Practical value of this test

• helps breeders identify carriers and at-risk dogs in Pyrenean Mountain Dog lines
• supports breeding combinations that avoid puppies with severe bleeding tendency
• gives owners useful information when bleeding, dental-gum problems or procedures become relevant
• supports transparent communication for sale, mating plans and healthy line management
• adds certainty beyond pedigree or clinical impression, because carriers can look healthy

Inheritance and result

This trait follows autosomal incomplete dominant inheritance. In practical terms, N/N means that the variant was not detected, N/dup means that one copy was detected and dup/dup means that two copies were detected. Two copies cause the tested form of Glanzmann thrombasthenia; one copy is especially important for breeding plans and transmission.