OFA and Genetic Testing

We have all of our Goldens tested for the following Golden Retriever genetic diseases, so that we can avoid breeding two carriers together, resulting in genetically affected or at risk progeny. We generally use Embark for Breeders or UC Davis for the majority of our genetic testing:

1. Ichthyosis (ICH-1 or PNPLA1) is a skin disease that can cause varying degrees of skin flaking for those that are genetically "at risk".

https://vgl.ucdavis.edu/test/ichthyosis-gr

2. Progressive Retinal Atrophy-(prcd) is a late onset eye disease that affects both rod and cone resulting in eventual blindness in affected Goldens.

https://vgl.ucdavis.edu/test/pra-prcd

3. Progressive Retinal Atrophy (PRA1) is characterized by bilateral degeneration of the retina resulting in progressive vision loss leading to total blindness. Clinical signs of PRA1 appear around 6 years of age.

https://vgl.ucdavis.edu/test/golden-retriever-pra

4. Progressive Retinal Atrophy (PRA2) is characterized by bilateral degeneration of the retina resulting in progressive vision loss leading to total blindness. Clinical symptoms of PRA2 appear around 4 years of age.

https://vgl.ucdavis.edu/test/golden-retriever-pra

5. Neuronal Ceroid Lipofuscinosis (NCL) (CLN5 GR Variant) is a progressive degenerative disease of the central nervous system. Signs of disease in affected dogs begin between one and two years of age and often result in euthanasia by 3 years of age.

https://vgl.ucdavis.edu/test/ncl-gr

6. Degenerative Myelopathy (DM) is an inherited neurological disorder of dogs characterized by gradual muscle wasting and loss of coordination typically beginning in the hind limbs. Affected dogs usually present clinical signs of disease in adulthood (at least 8 years of age) with gradual muscle wasting and loss of coordination typically beginning in the hind limbs.

https://vgl.ucdavis.edu/test/degenerative-myelopathy

7. Muscular Dystrophy (MD) is an inherited disease affecting Golden Retrievers. Affected dogs are unable to produce adequate amounts of a protein important for muscle contraction and relaxation.

https://www.pawprintgenetics.com/products/tests/details/136/?breed=75

8. Dystrophic Epidermolysis Bullosa is a hereditary skin disease affecting Golden Retrievers. Clinical signs of DEB are present at birth. Affected dogs have fragile skin that is easily damaged from rubbing or trauma resulting in blisters, ulcers and scarring of the skin.

https://www.pawprintgenetics.com/products/tests/details/54/?breed=75

9. Osteogenesis Imperfecta, Brittle Bone Disease is an inherited Collagen disorder affecting dogs. Affected dogs typically present between 3 to 4 weeks of age with pain, lameness and fractures. Because of the severity of the disease, pups with OI are usually euthanized by 3 months of age.

https://www.pawprintgenetics.com/products/tests/details/105/?breed=75

10. Congenital Myasthenic Syndrome (CMS) is a neuromuscular disorder that is characterized by progressive muscle weakening that worsens with exercise. CMS is first evident at 6-8 weeks of age. Affected dogs often have a choppy gait with a progressive stiffening of the legs during ambulation. Exercise exacerbates the symptoms.

https://vgl.ucdavis.edu/test/cms-gr

11. Exercise Induced Collapse (EIC) is an inherited neuromuscular disorder affecting several breeds of dog. EIC presents as exercise intolerance in apparently healthy dogs. Affected dogs are usually diagnosed before two years of age and appear normal during low to moderately strenuous activity. This disease is not common in Golden Retrievers, but the laboratory that we use has this disease as part of their normal testing

https://www.pawprintgenetics.com/products/tests/details/99/?breed=75

12. Chondrodystrophy (CDDY and IVDD Risk) with or without Chondrodysplasia (CDPA) affected dogs have premature degeneration and calcification of the cartilage discs that connect the vertebrae and function as shock absorbers for the spine. In some cases, these degenerative changes result in cartilage weakness and subsequent herniation of the discs into the spinal cord, causing hemorrhage and inflammation. This disease can be associated with dwarfism.

https://www.pawprintgenetics.com/products/tests/details/217/?breed=75

13. Ichthyosis 2 (ICH-2) is characterized by severe flaking with large amounts of whitish to brown scales and secondary infections with Malassezia. Weight loss and lethargy are associated with ICH-2. These are often not manageable with medications or baths. There are cases where puppies are requiring euthanasia due to how painful this disease can be. At this time there are only one laboratory (Penn Gen) that has the ability to test for this disease and all of our Goldens are tested for carrier status.

https://www.vet.upenn.edu/research/academic-departments/clinical-sciences-advanced-medicine/research-labs-centers/penngen/penngen-tests/genetic-tests/Detail/67/

Here is a link to the Golden Retriever page on the Embark website. You will find a list of Golden Retriever diseases that are currently offered as part of their normal health testing.

https://embarkvet.com/resources/dog-breeds/golden-retriever/