Border Collies are renowned for their intelligence, athleticism, trainability, and exceptional herding ability. As a breeder, you have the privilege and responsibility of preserving these remarkable characteristics while prioritizing the health and genetic diversity of future generations.
One of the most effective ways to support a healthy Border Collie breeding program is through a combination of genetic testing and veterinary health screening. DNA testing can identify specific inherited disease variants, while physical examinations and diagnostic screenings help assess conditions that cannot be diagnosed or measured through genetic testing alone.
In this guide, we’ll explore the differences between genetic testing and health screening, the genetic conditions relevant to Border Collies, and the recommended health screening breeders should consider.
Genetic screening vs. health testing
Both genetic testing and health screening play important roles in responsible Border Collie breeding. Understanding how they differ helps breeders make informed decisions about potential breeding pairs.
Genetic testing: the science of specificity
Genetic testing analyzes a dog's DNA to identify specific variants associated with inherited conditions. Border Collies can be affected by several genetic disorders involving vision, neurological function, metabolism, and other biological systems.
DNA tests can help identify clear, carrier, and genetically at-risk dogs for conditions with established variants and inheritance patterns. This information allows breeders to plan matings that reduce the risk of producing affected puppies.
However, a DNA result does not always predict whether or how severely a dog will develop a condition. Some variants have incomplete penetrance or variable expression, while other diseases are known to be influenced by multiple genes and environmental factors.
Health screening: the bigger picture
Health screening evaluates a dog's physical health using veterinary examinations and diagnostic procedures. For Border Collies, important evaluations include hip radiographs and examinations by a veterinary ophthalmologist.
These assessments can detect abnormalities that DNA testing cannot reliably identify or exclude. Hip dysplasia, for example, is a complex condition influenced by multiple genetic and environmental factors. A dog’s genetic test results at this time cannot determine adult hip scores.
Why both are important
Combining genetic testing with veterinary health screening provides a more complete picture of a breeding dog's health. It helps breeders reduce the risk of specific inherited disorders while also assessing broader health concerns and preserving genetic diversity.
Border collie genetic tests
Several inherited conditions have been documented in Border Collies, and DNA tests are available for many of them. The following table summarizes notable conditions, their associated genes where established, inheritance considerations, and potential clinical effects. Tests included standard in Optimal Selection and MyDogDNA testing are indicated with an asterisk. Frequencies at which these disorders are found in breeding Border Collies globally can be found on MyBreedData.
|
Genetic condition |
Associated gene or marker |
Inheritance or interpretation |
Potential clinical impact |
|
Early Adult Onset Deafness (EAOD)* (available as a linked marker test) |
In research |
Autosomal recessive |
Causes deafness in one or both ears, starting at about 5 years of age. Primarily seen in working-line Border collies. |
|
Collie Eye Anomaly (CEA)* |
NHEJ1 |
Autosomal recessive |
Abnormal development of the eye, with severity ranging from mild changes to vision-threatening complications. |
|
Intestinal Cobalamin Malabsorption (Discovered in the Border Collie) or Imerslund-Gräsbeck Syndrome (IGS) * |
CUBN |
Autosomal recessive |
Impaired vitamin B12 absorption, potentially causing poor growth, lethargy, digestive signs, and blood abnormalities. |
|
Trapped Neutrophil Syndrome (TNS)* |
VPS13B |
Autosomal recessive |
Impaired release of neutrophils from the bone marrow, increasing susceptibility to infections and serious illness. |
|
Dental Hypomineralization or Raine Syndrome* |
FAM20C |
Autosomal recessive |
Defective enamel mineralization that can cause abnormal teeth, increased wear, and dental problems. |
|
Sensory Neuropathy (Border Collie type)* |
FAM134B |
Autosomal recessive |
Progressive loss of sensory function, abnormal gait, self-injury, and impaired awareness of limb position. |
|
Multidrug Resistance 1 (MDR1)* |
ABCB1 |
Autosomal dominant |
Altered transport of certain medications across the blood-brain barrier, potentially causing serious neurological adverse reactions. |
|
Degenerative Myelopathy (DM)* |
SOD1 |
Autosomal recessive risk variant with incomplete penetrance |
Progressive spinal cord disease that can cause hind-limb weakness and loss of mobility. A risk genotype does not guarantee clinical disease. |
|
Goniodysgenesis and Glaucoma (Discovered in the Border Collie)* |
OLFML3 |
Autosomal recessive |
Defective drainage of fluid from the eye that can cause glaucoma, eye damage and blindness. |
|
Myotonia Congenita (Australian Cattle Dog type)* |
CLCN1 |
Autosomal recessive |
Delayed muscle relaxation following contraction. |
|
Neuronal Ceroid Lipofuscinosis 5 (NCL5)* |
CLN5 |
Autosomal recessive |
Progressive neurological deterioration, including changes in behavior, coordination, vision, and mobility. |
|
Von Willebrand Disease Type I* |
VWF |
Autosomal dominant with incomplete penetrance |
Inefficient platelet plug formation which increases risk of excessive bleeding. |
|
Hyperuricosuria (HUU)* |
SLC2A9 |
Autosomal recessive |
Increased urinary uric acid, which can contribute to urate stone formation and urinary obstruction. |
*Available in Wisdom Panel Breeder testing: Optimal Selection Canine, MyDogDNA, and MyDogDNA Select.
Incorporating appropriate genetic tests into a Border Collie breeding program helps breeders identify inherited risks and make informed mating decisions. Before ordering a test, confirm that the laboratory tests the relevant causal variant rather than a similarly named condition or a variant established in another breed.
Recommended Border Collie health screening
While DNA testing focuses on specific genetic variants, veterinary health screening assesses physical conditions that can affect a dog's quality of life and suitability for breeding.
The Orthopedic Foundation for Animals identifies several hip, elbow, and shoulder radiographic evaluation, examination by a veterinary ophthalmologist, autoimmune thyroiditis, cardiac exam, and BAER hearing test as recommended optional health tests for Border Collies through its CHIC program, developed from recommendations by national Border Collie clubs.
-
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.
-
Osteochondrosis (OC): This orthopedic condition can cause pain and reduced mobility in the shoulder joint, and is diagnosed with radiographs.
-
Eye Disorders: Annual eye examinations are critical for detecting conditions like cataracts or focal/multifocal acquired retinopathy, which may not be hereditary.
-
Thyroid Disease: Autoimmune Thyroiditis affects a number of breeds. Blood tests for thyroid hormone levels, thyroid stimulating hormone, or autoantibodies are necessary to screen for this condition.
-
Heart Disease: Thankfully of low incidence in Border Collies, but low levels of Pulmonic Stenosis (PS) have been reported. Screening ensures your dogs have healthy hearts before breeding.
-
Hearing: BAER testing (Brainstem Auditory Evoked Response) testing is necessary to rule out partial or complete hearing loss, for example, from EAOD.
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 Border Collies. 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 Border Collies
Combining appropriate DNA testing with veterinary health screening gives Border Collie breeders a stronger foundation for responsible breeding decisions. Genetic tests can identify specific inherited risks, while clinical evaluations help assess the dog's current health and detect conditions for which DNA testing cannot screen.
By using validated tests, considering family health histories, consulting veterinary professionals, and preserving genetic diversity, breeders can work toward healthier Border Collies without unnecessarily narrowing the breed's gene pool. The goal is not simply to produce puppies with clear DNA reports. It is to support future generations of Border Collies that can thrive as healthy companions and working dogs.
References
MyBreedData. Dog Genetic Disease Variant Frequencies. Accessed October 14, 2026. https://mybreeddata.com
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