P2RY12 Receptor Platelet Disorder

General Information: P2RY12 receptor platelet disorder is a genetic condition in Greater Swiss Mountain Dogs that affects the normal function of platelets, which are crucial for blood clotting. Affected dogs often display no noticeable symptoms until they undergo surgery, experience trauma, or when juvenile teeth are lost, which can lead to excessive bleeding such as nosebleeds or bleeding from the mouth. This disorder is typically uncovered only during surgical procedures when unexpected bleeding occurs, indicating the need for readily available blood transfusions. Despite this bleeding risk, affected dogs can lead normal lifespans if managed carefully to avoid injuries and unnecessary surgeries.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the P2RY12 gene is essential to determine if a dog is a carrier of the P2RY12 receptor platelet disorder, a condition inherited in an autosomal recessive manner. This means a dog must inherit two copies of the defective gene, one from each parent, to exhibit the disorder. Carrier dogs, possessing only one copy of the gene, do not show symptoms but can produce affected offspring if bred with another carrier. Each puppy from such a pairing has a 25% chance of being affected and a 50% chance of being a carrier. To prevent the propagation of this condition, breeding of carriers should be avoided. Testing is recommended for breeding dogs to ensure that carriers are not mated with other carriers, thereby helping to eliminate this mutation from the breeding population. Dogs without any copies of the mutation are not at risk of producing affected offspring, but other genetic conditions could still be present, so a clean test result for P2RY12 does not rule out other potential genetic diseases.