A genetic test is currently available through the Orthopedic Foundation for Animals in association with the Animal Molecular Genetic Diseases Laboratory of the University of Missouri. (http://www.caninegeneticdiseases.net/) The pet owner or veterinarian can order the test through OFA and a kit will be sent to collect DNA in the form of a cheek swab.
Interpreting Results
Normal (N/N): This dog is homozygous N/N, with two normal copies of the gene. In the seven breeds studied at the University of Missouri in depth so far, dogs with test results of N/N (Normal) have never been confirmed to have DM. This dog can only transmit the normal gene to its offspring, and it is unlikely that this dog or its offspring will ever develop DM.
Carrier (A/N): This dog is heterozygous A/N, with one mutated copy of the gene and one normal copy of the gene, and is classified as a carrier. In the seven breeds studied at the University of Missouri in depth so far, dogs with test results of A/N have never been confirmed to have DM. While it is highly unlikely this dog will ever develop DM, this dog can transmit either the normal gene or the mutated gene to its offspring.
At-Risk (A/A): This dog is homozygous A/A, with two mutated copies of the gene, and is at risk for developing Degenerative Myelopathy (DM). The research has shown that all dogs in the research study with confirmed DM have had A/A DNA test results, however, not all dogs testing as A/A have shown clinical signs of DM. DM is typically a late onset disease, and dogs testing as A/A that are clinically normal may still begin to show signs of the disease as they age. Some dogs testing A/A did not begin to show clinical signs of DM until they were 15 years of age. Research is ongoing to estimate what percentage of dogs testing as A/A will develop DM within their lifespan. At this point, the mutation can only be interpreted as being at risk of developing DM within the animal’s life. For dogs showing clinical signs with a presumptive diagnosis of DM, affected (A/A) test results can be used as an additional tool to aid in the diagnosis of DM. Dogs testing Affected (A/A) can only pass the mutated gene on to their offspring.