Golden retrievers are cherished worldwide for their intelligence, loyalty, and gentle nature. As a breeder, you have the privilege and responsibility of preserving these beloved traits while prioritizing the breed’s long-term health, and you follow in the footsteps of healthy breeding pioneers. The Golden retriever Club of America championed health testing in the United States, and were instrumental in the development of the AKC Canine Health Foundation, a leading funder of purebred dog research since 1995.
One of the most effective ways to ensure the well-being of golden retrievers is through comprehensive health testing, including genetic testing and screening. By prioritizing golden retriever genetic testing, breeders can safeguard the health of future generations.
In this guide, we’ll explore the differences between genetic testing and health screening, and the recommended genetic and health tests for golden retrievers.
Genetic screening vs health testing
When it comes to maintaining the health of your breeding program, both genetic testing and health screening play vital roles. Understanding their distinctions helps clarify how they complement each other in your efforts to produce healthy, happy puppies.
Genetic testing: the science of specificity
Genetic testing involves analyzing a dog’s DNA to identify specific variants associated with hereditary conditions. For golden retrievers, this means detecting breed-specific risks like progressive retinal atrophy (GR-PRA1, GR-PRA2) and muscular dystrophy. These tests provide precise, actionable information about a dog’s genetic makeup, enabling you to identify carriers or at-risk individuals.
Health screening: the bigger picture
Health screening, in contrast, focuses on assessing broader health factors. Techniques such as radiographic evaluation for hip and elbow dysplasia, cardiac exams, and eye certifications give you a more comprehensive understanding of a dog’s overall health. Screening addresses traits influenced by both genetics and environment, such as orthopedic or cardiac conditions.
Why both are important
While genetic testing pinpoints specific hereditary risks, health screening ensures that you’re accounting for multifactorial conditions that genetic testing alone can’t detect. By combining both, you create a thorough health strategy for your breeding program, one that minimizes risks while preserving genetic diversity.
Golden retriever genetic tests
Thanks to advancements in science, we now understand the underlying genetics of several conditions in golden retrievers, allowing breeders to proactively manage these risks and promote healthier dogs. Below is a table summarizing the most important genetic conditions to test for, the genes associated with each, their inheritance patterns, and clinical impacts. All are included standard in Optimal Selection and MyDogDNA testing.
|
Condition |
Associated Gene(s) |
Inheritance Pattern |
Clinical Impact |
|
Progressive Retinal Atrophy (Discovered in the Golden retriever - GR-PRA1 variant) |
SLC4A3 |
Autosomal Recessive |
A cause of blindness in golden retrievers, this condition leads to progressive vision loss and eventual blindness |
|
Progressive Retinal Atrophy (Discovered in the Golden retriever - GR-PRA2 variant) |
TTC8 |
Autosomal Recessive |
A cause of blindness in golden retrievers, this condition leads to progressive vision loss and eventual blindness |
|
Muscular Dystrophy (Discovered in the Golden Retriever) (DMD) |
DMD |
X-linked Recessive |
Duchenne’s Muscular Dystrophy causing muscle weakness and reduced mobility, impacting quality of life. |
|
Neuronal Ceroid Lipofuscinosis 5 (Discovered in the Golden Retriever) (NCL5) |
CLN5 |
Autosomal Recessive |
A devastating neurological disorder found in Golden retrievers, leading to coordination loss, seizures, and early death. |
|
Ichthyosis (Discovered in the Golden retriever) |
PNPLA1 |
Autosomal Recessive |
A skin condition in Golden retrievers that causes flaking and scaling, leading to discomfort and aesthetic concerns. |
|
Ichthyosis Type 2 (Discovered in the Golden retriever) |
ABHD5 |
Autosomal Recessive |
A skin condition in Golden retrievers that causes flaking and scaling, leading to discomfort and aesthetic concerns. |
|
Progressive Rod-Cone Degeneration (prcd-PRA) |
PRCD |
Autosomal Recessive |
A hereditary condition causing gradual retinal degeneration and vision loss in golden retrievers and many other breeds. |
|
Congenital Myasthenic Syndrome (Discovered in the Golden Retriever) (CMS) |
CHAT |
Autosomal Recessive |
A rare neuromuscular disorder affecting Golden retrievers, leading to weakness and fatigue. |
|
Dystrophic Epidermolysis Bullosa (Discovered in the Golden Retriever) (DEB) |
COL7A1 |
Autosomal Recessive |
A rare skin condition in Golden retrievers causing blistering and fragility, impacting comfort and quality of life. |
|
Degenerative Myelopathy (DM) |
SOD1 |
Autosomal Recessive |
A progressive neurological disease affecting Golden retrievers and several other breeds, leading to loss of mobility in the hind limbs and eventual paralysis. |
|
Congenital Eye Malformations (Discovered in the Golden Retriever) |
SIX6 |
Autosomal Dominant |
A rare cause of eye abnormalities affecting one or both eyes and can impair vision. |
Integrating these genetic tests into your golden retriever breeding program is an essential step toward reducing inherited conditions and supporting a healthier breed. Taking a comprehensive approach to golden retriever DNA testing empowers breeders to identify carriers and minimize the risk of producing affected puppies, while also maintaining genetic diversity.
Golden retriever recommended health screening
While golden retriever DNA testing focuses on specific hereditary risks, health screening takes a broader approach by evaluating the overall health of breeding dogs. These screenings address conditions influenced by both genetics and environment, ensuring that you’re supporting the long-term health of your golden retrievers
-
Hip Dysplasia (HD): Radiographic evaluations detect abnormalities in the hip joints that could lead to arthritis or lameness. Ensuring your dogs have OFA (Orthopedic Foundation for Animals) or PennHIP certifications is essential.
-
Elbow Dysplasia (ED): Similar to hip dysplasia, this orthopedic condition can cause pain and reduced mobility. Screening ensures you’re not unknowingly passing on these traits.
-
Eye Disorders: Annual eye examinations are critical for detecting conditions like Pigmentary Uveitis, which can lead to blindness if untreated.
-
Heart Disease: Subvalvular Aortic Stenosis (SAS), a hereditary heart condition, is a concern for Golden retrievers. Screening ensures your dogs have healthy hearts before breeding.
Together, these screenings provide a comprehensive picture of your breeding dogs' health, addressing both inherited and environmental factors.
Why health testing takes center stage in breeding programs
Genetic testing is a powerful tool that supports breeders in making informed, proactive decisions to enhance their breeding programs. One of its key benefits is the ability to prevent inherited diseases by identifying carriers and at-risk dogs. With this knowledge, you can make breeding choices that avoid producing affected puppies, ensuring healthier litters. Beyond disease prevention, genetic testing plays a vital role in preserving genetic diversity. Instead of excluding carriers entirely, testing enables you to strategically pair them with clear dogs, helping to avoid bottlenecks in your gene pool while maintaining a wide variety of traits within the breed.
Additionally, genetic testing builds trust with your puppy buyers by demonstrating your dedication to transparency and responsible breeding practices. This not only reflects your commitment to the well-being of your dogs but also strengthens confidence in the health of their future companions. Far from limiting your options, genetic testing empowers you with the tools to protect and enhance the breed you love.
Maintaining detailed records of your dogs’ health screenings, genetic test results, and pedigrees is equally essential, as it provides a foundation for thoughtful, data-driven breeding decisions that benefit future generations. Additionally, staying informed about advancements in genetic science allows you to adapt your program to new discoveries and testing technologies relevant to golden retrievers. Every decision you make, backed by these tools and insights, contributes to a healthier and brighter future for the breed, empowering you to safeguard the well-being of your dogs and their offspring with confidence.
Building a healthier future for golden retrievers
By combining genetic testing with comprehensive health screenings, you’re taking a proactive approach to protect the health and happiness of golden retrievers. These tools allow you to identify risks, prevent hereditary conditions, and make informed breeding decisions that strengthen the breed’s legacy.
Your dedication to responsible breeding upholds the highest standards of care, ensuring that future generations of golden retrievers live long, healthy, and happy lives. By combining advanced golden retriever DNA testing with comprehensive health screenings, you are investing in the future of this remarkable breed. Together, we can protect the traits we love while building a healthier tomorrow for golden retrievers.
References:
Awano T, Johnson GS, Wade CM, Katz ML, Johnson GC, Taylor JF, Perloski M, Biagi T, Baranowska I, Long S, March PA, Olby NJ, Shelton GD, Khan S, O'Brien DP, Lindblad-Toh K, Coates JR. Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A. 2009 Feb 24;106(8):2794-9. doi: 10.1073/pnas.0812297106. Epub 2009 Feb 2. PMID: 19188595; PMCID: PMC2634802.
Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne JP, Bruckner-Tuderman L, Meneguzzi G. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet. 2003 Aug 1;12(15):1897-905. doi: 10.1093/hmg/ddg200. PMID: 12874109.
Baranowska I, Jäderlund KH, Nennesmo I, Holmqvist E, Heidrich N, Larsson NG, Andersson G, Wagner EG, Hedhammar A, Wibom R, Andersson L. Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene. PLoS Genet. 2009 May;5(5):e1000499. doi: 10.1371/journal.pgen.1000499. Epub 2009 May 29. PMID: 19492087; PMCID: PMC2683749.
Downs LM, Wallin-Håkansson B, Bergström T, Mellersh CS. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol. 2014 Apr 16;1:4. doi: 10.1186/2052-6687-1-4. PMID: 26401321; PMCID: PMC4574394.
Downs LM, Wallin-Håkansson B, Boursnell M, Marklund S, Hedhammar Å, Truvé K, Hübinette L, Lindblad-Toh K, Bergström T, Mellersh CS. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One. 2011;6(6):e21452. doi: 10.1371/journal.pone.0021452. Epub 2011 Jun 27. PMID: 21738669; PMCID: PMC3124514.
Gilliam D, Kolicheski A, Johnson GS, Mhlanga-Mutangadura T, Taylor JF, Schnabel RD, Katz ML. Golden retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab. 2015 Jun-Jul;115(2-3):101-9. doi: 10.1016/j.ymgme.2015.04.001. Epub 2015 Apr 23. PMID: 25934231.
Golden retriever Club of America. Health & Research. Golden retriever Club of America, https://grca.org/about-the-breed/health-research/. Accessed 24 Jan. 2025.
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012;44(2):140-7. doi: 10.1038/ng.1056.
Kiener S, Wiener DJ, Hopke K, Diesel AB, Jagannathan V, Mauldin EA, Casal ML, Leeb T. ABHD5 frameshift deletion in Golden retrievers with ichthyosis. G3 (Bethesda). 2022;12(2):jkab397. doi: 10.1093/g3journal/jkab397.
Proschowsky HF, Flagstad A, Cirera S, Joergensen CB, Fredholm M. Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J Hered. 2007;98(5):539-43. doi: 10.1093/jhered/esm026. Epub 2007 Jun 22. PMID: 17586598.
Sharp NJ, Kornegay JN, Van Camp SD, Herbstreith MH, Secore SL, Kettle S, Hung WY, Constantinou CD, Dykstra MJ, Roses AD, et al. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 1992 May;13(1):115-21. doi: 10.1016/0888-7543(92)90210-j. PMID: 1577476.
Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Genomics. 2006 Nov;88(5):551-63. doi: 10.1016/j.ygeno.2006.07.007. Epub 2006 Aug 30. PMID: 16938425; PMCID: PMC3989879.
