Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 2

General Information: Ehlers-Danlos Syndrome (EDS) (Labrador Retriever Type), Variant 2 is a hereditary connective tissue disorder affecting Labrador Retrievers, typically becoming evident before two years of age. Dogs with this condition have abnormally loose (hypermobile) joints, leading to an increased risk of dislocations, and their skin is excessively elastic, easily torn, bruised, and capable of stretching far beyond normal limits. Affected dogs may exhibit open wounds, swelling, or scars from past injuries, and they often experience fragile blood vessels that can lead to frequent bruising and bleeding. Due to the severity of the condition, which significantly impacts the quality of life, affected dogs may sometimes require euthanasia to prevent prolonged suffering.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Ehlers-Danlos Syndrome (Labrador Retriever Type), Variant 2 involves screening for mutations in the COL5A1 gene. This disorder is inherited in an autosomal dominant manner, meaning that a dog only needs to inherit one copy of the mutated gene to develop the disease. Each puppy born to a parent carrying one copy of the mutation has a 50% chance of inheriting the mutation and being at risk for the disease. Genetic testing is crucial for identifying carriers and making informed breeding decisions. To prevent the transmission of EDS and avoid producing affected puppies, it is recommended to avoid breeding dogs known to carry the mutation. By ensuring that breeding pairs do not include carriers of the COL5A1 mutation, breeders can help reduce the incidence of this debilitating condition and promote healthier, more robust future generations.