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Genetic Health Education Last Updated:

Genetic Health Testing for Golden Retrievers

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golden retriever puppy

Embark for Breeders offers nine breed-specific genetic health tests for the Golden Retriever among Embark’s 215+ genetic health conditions. Breeders can easily share breed-specific DNA test results on parents or puppies with the one-page DNA Health Summary report offered with Embark test results.  

Genetic health testing is an integral part of a responsible dog breeding program. When using genetic health testing it is important for breeders to educate themselves about concepts such as modes of inheritance, penetrance, prevalence, and phenotype for a specific variant (mutation) in your breed in order to apply test results. Breeders also need to know which variants are causing health concerns in their breed, and which health conditions currently have no genetic test available. This handy search function by breed or by health condition can show breeders which DNA tests Embark provides. 

Embark DNA tests for the Golden Retriever include the following conditions. The health condition percentages based on clear, carrier, and at-risk status presented on common, rare, and very rare genetic risk factors are based on a subset of dogs within the Embark database and do not necessarily represent all dogs of this breed. While we are not able to provide specific population numbers at this time, we believe the data provided here to be sufficient to inform on current trends within the North American population of Golden Retrievers. 

Common genetic health risk factors <95% clear rate

These are the most common genetic conditions based on Embark data, ranked from most to least prevalent, in the Golden Retriever with less than 95% of dogs testing clear. 

Ichthyosis, ICH1 (PNPLA1, Golden Retriever Variant)

This skin disorder gets its name from the thick, darkly pigmented scales of skin (“ichthys” is Greek for “fish”) that affected dogs display on their skin. Ichthyotic dogs typically have large, greasy flakes of dandruff, but aren’t itchy. The scales of skin can get so thick that they can crack and cause fissures, leading to considerable discomfort. The gene is PNPLA1 (Exon 8) and the mode of inheritance is recessive.  

  • Based on Embark-tested Golden Retrievers that have opted into research, here’s a snapshot of the breed today: 55% of dogs tested clear, 38% tested carriers, and 7% tested at-risk for Ichthyosis, ICH1 (PNPLA1, Golden Retriever Variant). 

 Citations: Grall et al 2012

Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8)

Golden Retriever PRA 2 is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness. The gene is TTC8 Exon 8 and the mode of inheritance is recessive. 

  • Based on Embark-tested Golden Retrievers that have opted into research, here’s a snapshot of the breed today: 94.7% of dogs tested clear, 5.2% tested carriers, and 0.1% tested at-risk for Golden Retriever Progressive Retinal Atrophy 2, GR-PRA2 (TTC8).  

Citations: Downs et al 2013

Rare genetic health risk factors 95-99% clear rate

These are rare genetic conditions, from lowest to highest, in the Golden Retriever with from 95% to 99% of dogs testing clear. 

Progressive Retinal Atrophy, prcd (PRCD Exon 1)

PRA-prcd is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness. The gene is PRCD Exon 1 and the mode of inheritance is recessive. 

  • Based on Embark-tested Golden Retrievers that have opted into research, here’s a snapshot of the breed today: 95.55% of dogs tested clear, 4.36% tested carriers, and 0.09% tested at-risk for Progressive Retinal Atrophy, prcd (PRCD Exon 1).  

Citations: Zangerl et al 2006

Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3)

Golden Retriever PRA 1 is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and color. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness. The gene is ​​SLC4A3 Exon 16 and the mode of inheritance is recessive. 

  • Based on Embark-tested Golden Retrievers that have opted into research, here’s a snapshot of the breed today: 97.1% of dogs tested clear, 2.8% tested carriers, and 0.1% tested at-risk for Golden Retriever Progressive Retinal Atrophy 1, GR-PRA1 (SLC4A3).  

Citations: Downs et al 2011

Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 Deletion, Golden Retriever Variant)

A lysosome is a structure within the cell that digests and removes waste. When the lysosome cannot recycle waste properly, the waste accumulates and causes the cell to die. This form of lysosomal storage disease causes juvenile to adult onset neurologic signs. The gene is CLN5 (Exon 4 Deletion) and the mode of inheritance is recessive. 

  • Based on Embark-tested Golden Retrievers that have opted into research, here’s a snapshot of the breed today: 99% of dogs tested clear, 0.9% tested carriers, and 0.1% tested at-risk for Neuronal Ceroid Lipofuscinosis 5, NCL 5 (CLN5 Exon 4 Deletion, Golden Retriever Variant).   

Citations: Gilliam et al 2015

Very rare genetic health risk factors >99% clear rate

The following genetic conditions have a greater than 99% clear rate and are considered very rare genetic diseases in Golden Retrievers. 

Congenital Myasthenic Syndrome, CMS (COLQ, Golden Retriever Variant)

This is a non-progressive disease characterized by episodes of exercise intolerance and weakness. The gene is COLQ Exon 13 and the mode of inheritance is recessive. 

Citations: Tsai et al 2019

Dystrophic Epidermolysis Bullosa (COL7A1, Golden Retriever Variant)

This condition arises from a mutation in Collagen Type VII. Collagens of all types anchor the layers of our skin together: they are what gives skin its springy, youthful texture (and thus are a big component of anti-wrinkle creams). Collagen Type VII has the specific job of connecting the epidermis, the surface layer of the skin, to the underlying tissues, leading to dogs with especially stretchy skin that is easily detached from the underlying tissues. The gene is COL7A1 (Exon 68) and the mode is recessive. 

Citations: Baldeschi et al 2003

Muscular Dystrophy (DMD, Golden Retriever Variant)

The DMD gene produces the protein dystrophin. Dogs affected with MD have abnormally low levels of functional dystrophin, leading to muscle fiber damage, progressive muscle wasting, and weakness. The gene is DMD and the mode of inheritance is x-linked recessive. 

Citations: Sharp et al 1992

Osteogenesis Imperfecta, Brittle Bone Disease (COL1A1, Golden Retriever Variant)

Our bones are equal parts rigid and flexible, making them capable of withstanding high impact as well as constant tension from attached muscle tendons and ligaments. Dogs affected with OI have lost the flexible part of the bone, which is primarily made of Type I collagen. This leads to extremely brittle bones and teeth. Type I collagen is also important in joints; as such, affected dogs can also present with hyperflexible joints and joint pain. The gene is COL1A1 (Exon 13) and the mode of inheritance is dominant.

Citations: Campbell et al 2000

With nine known conditions in Golden Retrievers, this is evidence that genetic disorders are of concern within the breed and other conditions are likely to be identified in the future. By DNA testing your Golden Retriever with Embark you can help accelerate more novel discoveries to help your breed and all dogs. 

Canine Health and Breed Resources 

Golden Retriever Club of America 

Orthopedic Foundation for Animals (OFA)

OFA Canine Health Information Center (CHIC)

OFA-CHIC Health Testing Requirements for the Golden Retriever 

Mandatory
Hip Dysplasia 

Elbow Dysplasia 

Eye Examination 

Cardiac Evaluation 

Genetic health testing is not a diagnosis of a disease. Please consult your veterinarian for any health issues with your dog. To start your DNA testing journey, breeders can select from a variety of Embark for Breeders Dog DNA Kits. 

 

Lisa Peterson Contributor

Award-winning writer, journalist, and podcast host, Lisa Peterson, is a canine subject matter expert and Senior Content Strategist, Breeder/Veterinarian at Embark Veterinary. She served as the American Kennel Club director of communications and club communications for 10 years before becoming a Westminster Kennel Club public relations consultant from 2016 to 2021. Lisa began owning, breeding, and handling Norwegian Elkhounds more than 35 years ago, and today is an AKC judge and AKC Breeder of Merit.

Read more about Lisa Peterson

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