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://netapps.vet.upenn.edu/PennGen/SampleTesting/GeneticsTest.aspx?testid=66

2. 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/

3.  Progressive Rod-Cone Degeneration (PRA-prcd) affects the photoreceptor cells in the eye involved in both night and day vision. The cells of the retina involved in low light vision, known as rods, are affected first, resulting in night blindness. Subsequently, the bright light photoreceptors known as cones, which are important for color vision, are also affected, resulting in daytime visual deficit. 

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

4. 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

5. 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

6. 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

7. 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

*8. 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://animalgenetics.com/dog-tests/canine-disorder-tests/41-grmd-2/

*9. 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://embarkvet.com/products/dog-health/health-conditions/dystrophic-epidermolysis-bullosa/

*10. 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://embarkvet.com/products/dog-health/health-conditions/osteogenesis-imperfecta-brittle-bone-disease-col1a1-golden-retriever-variant/

11. 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

*12.  Retinal Dysplasia and/or Optic Nerve Hypoplasia - This variant may affect normal eye development, leading to changes in the retina or optic nerve. One or both eyes may be underdeveloped, formed abnormally, or have reduced function, with severity varying between dogs. 

https://embarkvet.com/products/dog-health/health-conditions/retina-dysplasia-and-or-optic-nerve-hypoplasia/ 

13. Sensory Ataxic Neuropathy (SAN) is a progressive neurological disorder characterized by involuntary muscle movements and abnormal posture resulting from degeneration of the nerves controlling muscle movement. It affects both sexes but is only inherited maternally. 

https://vgl.ucdavis.edu/test/san-gr 

14. Hypertrophic cardiomyopathy (HCM) is characterized by abnormal thickening of the left ventricle, the heart chamber responsible for pumping blood to the body. HCM is a genetic cardiac disorder commonly affecting the functional unit of contractility for cardiac muscle, known as the cardiac sarcomere. The disease frequently affects cats and very rarely is it observed in dogs. However, lethal HCM has been documented in a family of Golden Retrievers. 

https://hospital.cvm.ncsu.edu/services/small-animals/genetics/golden-retriever-hcm/ 

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/genetic-health-testing-for-golden-retrievers/

*These tests are only in our Goldens that were genetically tested through Embark. As a double layer of protection on many of the diseases, both Adara and Nava were tested through Embark and UC Davis.