Bernard-Soulier Syndrome

General Information: Bernard-Soulier Syndrome (BSS) is a genetic bleeding disorder that affects dogs, typically presenting between 2 to 4 years of age. Affected dogs exhibit variable signs of bleeding, such as prolonged bleeding and hematoma formation after routine procedures like blood draws. Other common symptoms include bleeding around the gums, nosebleeds, and episodes of severe bleeding in response to trauma or during surgery. Female dogs may experience severe bleeding episodes during whelping. Veterinary examination often reveals low platelet and red blood cell counts, along with abnormally large platelets in blood samples. While treatment is primarily supportive and may require blood transfusions, dogs with BSS can have a good quality of life with proper management.

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 Bernard-Soulier Syndrome (BSS) involves screening for mutations in the GP9 gene. This disorder is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carriers do not typically exhibit symptoms but can pass the mutation to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected and a 50% chance of being a carrier. To prevent producing affected puppies and eliminate the mutation from breeding lines, it is crucial to avoid breeding two carriers. Genetic testing before breeding is essential, as symptoms of BSS do not appear until adulthood. Dogs that are not carriers of the mutation do not pose a risk of producing affected puppies, making genetic testing an essential tool in responsible breeding practices.