For each test, you have the possibility of receiving the following results: Clear, Carrier, or At Risk.
Clear means that your dog has two healthy copies of the gene sequence being tested and is not at risk for developing the associated disease, at least due to the effects of that mutation.
Carrier means that your dog carries one copy of healthy sequence and one copy of mutated sequence, and that he or she is not at risk for being clinically affected with the disease. Embark describes the carrier state only for diseases that are inherited in an autosomal recessive manner. Carriers will pass the mutated copy of the gene to about half of their offspring. Therefore, if you plan to breed a carrier, testing any potential mates is of the greatest importance. This will ensure you do not produce puppies who are at risk for developing the disease.
At Risk means that your dog has potential for showing clinical signs of the disease for which the mutation promotes risk.
For diseases that are inherited in an autosomal recessive fashion, it means your dog has two copies of the mutation.
For diseases expressed in a dominant manner, only one copy of the mutation is needed for a dog to be at risk.
For diseases that are X-linked (the mutation resides on the X chromosome) male dogs need just one copy of the mutation to be at risk—as they have only one X chromosome. For recessively inherited conditions, female dogs require two copies of the mutation to be at risk. Female dogs who have one copy of a recessively inherited X-linked mutation are often referred to as carriers, but they can exhibit signs of disease that range from clinically asymptomatic to fully affected. This is due to a phenomenon known as X-Chromosome Inactivation.
Some mutations are described to be incompletely penetrant. This means that not all dogs with an at-risk genotype will develop clinical signs of the disease. It is likely that the effects of these mutations are impacted by other genetic and environmental factors. In some cases, we can give you an idea of your dog's individual risk based on the prevalence of the disease in question in your dog's breed, but in many cases we cannot due to lack of current published research.
Keep in mind that an at-risk result is by no means a clinical diagnosis. We strongly recommend contacting your veterinarian to determine the best steps for testing, treating, and monitoring your dog. Embark's team of veterinary geneticists are available to speak with you and your veterinarian as well.