Thrombopathia / thrombopathy (RASGRP2-related) - American Eskimo Dog

What does this test examine?

This genetic test detects the RASGRP2 c.452dup variant that causes thrombopathia / thrombopathy in the American Eskimo Dog. The condition is also known as thrombocytopathy, platelet function disorder, RASGRP2-related platelet disorder and CalDAG-GEFI-related bleeding risk.

What does this condition mean?

In thrombopathia, the number of platelets is not necessarily the main problem: platelet function is impaired. Platelets should activate quickly after vessel injury, attach to each other and help form the first stable plug. The RASGRP2 variant weakens this response, so bleeding can continue longer or become unexpectedly severe.

Affected dogs may show nosebleeds, bleeding gums, small pinpoint bleeding spots on skin or mucous membranes, easy bruising, prolonged bleeding after small wounds or nail trimming, bleeding after dental work or surgery and sometimes anaemia after repeated or severe blood loss. Some dogs are only noticed when an injury, operation or other haemostatic challenge occurs.

Inheritance and result

This trait is autosomal recessive. A dog with two normal copies is clear for the tested variant. A dog with one copy is a carrier: usually without signs, but important for breeding decisions. A dog with two copies is genetically affected and has an increased risk of clinically relevant bleeding problems.

For this variant, result labels are shown as N/N, N/dup and dup/dup.

Practical value of this test

This test gives breeders, owners and veterinarians clear information about an inherited bleeding risk that can otherwise remain hidden. It is useful for breeding selection, family screening and planning situations in which blood loss may occur.

• Distinguishes clear dogs, carriers and genetically affected dogs.
• Helps avoid carrier-to-carrier matings and prevents affected puppies.
• Supports better preparation for surgery, dental procedures, injuries or other situations with bleeding risk.
• Adds confidence for purchase, sale and line management within the breed.
• Enables targeted screening of relatives when a carrier or affected dog is identified.