Why is Genetic Testing Important?

DNA Tests help breeders and pet owners to understand their dog’s genetics. With these tests, they are able to determine if their dogs are healthy. Ethical breeders spend a lot of time, money, and effort to check if their breeding pairs are fit to reproduce. By testing their genetics, they can make sure that the puppies are healthy.

Genetic testing is essential to determine whether or not a breeding pair will pass on health issues and other concerns to their puppies. All ethical breeders do genetic testing to ensure their puppies are at their best health. 

What is Genetic Testing?

Genetic testing is a straightforward approach for us to discover more about our dogs. The genetic coding of an individual contains a plethora of information. A variety of tests can be done on a sample of your pet’s DNA-containing cells, either individually or as part of a profile, to provide essential information about your pet’s genetic makeup.

For more than two decades, dogs have been subjected to genetic testing. It is simple and convenient and has become more economical as technology advances. The cost is comparable to routine blood profiles, so it is quickly becoming a standard disease identification and prevention test.

How to Get Your Dog Tested?

Most DNA testing needs a simple mouth swab inside your dog’s mouth, usually from the cheek. Some DNA testing may necessitate the collection of a blood sample from your dog, but this is uncommon.

How Does the Process Go?

Several tests, either individually or as part of a profile, can be performed in the laboratory, including:

  • The DNA mixed-breed ancestry profile can assist in determining which purebreds are most likely to have contributed to your pet’s mix.
  • Purebred, hybrid, and mixed-breed pets can all have complete genetic attribute profiles generated. This delivers helpful information, evaluating dozens of medical disorders and specific characteristics.
  • Specific breed profiles can be done, examining just symptoms that are frequent in that breed.
  • Individual genetic tests can be performed when there is only one medical concern.

With the advancement of technology, it is now just as affordable to run a complete profile with dozens of tests as it is to do a few tests typical of a particular breed. Running the entire profile makes more sense (financially and otherwise) than attempting to foresee which tests could be most pertinent virtually always. A pet does not need to become unwell and exhibit clinical symptoms before a diagnosis can be made and treatment or preventive measures can be initiated. This is because genetic testing is now widely available. 

What are Autosomal-Recessive Conditions?

An animal must get two copies of the defective gene, one from each parent, to exhibit symptoms of an autosomal recessive genetic condition. This is most common when both parent animals are asymptomatic carriers of the illness.

Because the ailment is recessive, an animal with one copy of the faulty gene and one copy of the normal gene will not develop symptoms. However, if two carriers are bred, 25% of their kids will have two defective copies of the gene and so express the genetic condition. Another 50% of their descendants will be hereditary carriers of the illness since they have one faulty gene copy. Finally, 25% of their descendants will be unaffected because they have two regular copies of the gene.

Autosomal recessive disorders are more likely to occur when closely related animals such as purebred dogs and cats are bred. This is due to genetic similarities between closely associated animals. Furthermore, autosomal recessive characteristics are challenging to eliminate from the breeding pool. Many carriers exhibit no visible sickness symptoms, making them difficult to detect. When a carrier is bred with another carrier, the manifestation of genetic abnormalities in offspring may look random if the circumstances that result in the expression of a recessive genetic disorder are not understood.

How Are the Outcomes Documented?

Tested dogs will be classified as clear, carrier, or affected on the system.


These dogs have no copies of the faulty gene linked to the ailment. These dogs are unlikely to develop this illness, and their offspring will inherit a regular gene copy.


These dogs have one copy of the normal gene and one copy of the defective gene linked to the disorder under investigation. These dogs are extremely unlikely to have this ailment and may pass either one copy of the normal gene or one copy of the defective gene to their puppies.


These dogs have two copies of the faulty gene linked to the disorder under investigation. These dogs are almost certainly affected by the illness and will pass on one copy of the defective gene to any subsequent offspring.

Breeding Tips for Autosomal-Recessive Conditions

If Your Dog is Clear

Clear dogs can be mated with any other dog without having afflicted puppies. They may generate carrier puppies if bred with a carrier or afflicted dog.

If Your Dog is a Carrier

Carrier dogs can be used for mating if they are mated solely to clear dogs. Breeding a carrier to another carrier or a carrier to an afflicted dog endangers the health of future puppies.

If Your Dog is Affected

Affected dogs can only be mated to clear dogs to avoid having affected puppies, although all subsequent puppies will be carriers. Breeding an infected dog with a carrier or another affected dog endangers the health of future offspring.

Possibility of Generating Afflicted Puppies

Producing affected puppies who will develop the ailment you tested will significantly affect their health and welfare. A mating that may result in afflicted puppies should never be done deliberately. Testing all puppies before they are reproduced or returned to new homes is critical if this mating occurs accidentally. A veterinarian should evaluate any affected puppies for clinical care.

Why Should Carriers and Affected Dogs Still be Bred?

Only breeding from clear dogs can substantially impact genetic diversity within a breed, increasing inbreeding and, as a result, the chance of new inherited disorders arising.

  • A carrier of a simple autosomal-recessive disorder will not be impacted by the condition you have tested for, but they may pass on a copy of the faulty gene if they are bred from it.
  • A dog will only be affected if it inherits two copies of a defective gene.
  • Carriers are crucial to any breeding plan and should not be disregarded when utilized correctly.
  • You can keep nice, healthy dogs in the breeding population by breeding from carriers, which helps to maintain genetic diversity.
  • Ultimately, it would be better to seek to produce only clean puppies over a few generations, reducing the prevalence of the disease-causing form of the gene in the breed.

Similarly, an affected dog could still be utilized in a breeding program, but this will be highly dependent on the condition and if the mating/whelping procedure would be detrimental to the dog’s welfare. To ensure that no afflicted puppies are produced, they should only be mated to clear dogs.

Are Clear Dogs Completely Clear?

Clear dogs are known to be clear only for the condition for which they have been tested, and they may carry other unknown mutations that can be passed on to their offspring – it is almost certain that all individuals take some versions of genes that, if inherited in duplicate, would result in disease. If a dog has many pups who go on to breed, these undiscovered mutations may become more common in the breed, and a new inherited disease may emerge. In other words, no dog is entirely risk-free, but there are steps a breeder may take to lessen the danger of both known and undiscovered genetic diseases.

Additional Warnings About Utilizing Carriers or Affected Dogs

By following these guidelines, you can continue using these dogs for breeding while preserving genetic diversity.

Never Exploit a Carrier or Afflicted Dog for Mating More Than Once

A dog with one or two copies of a known defective gene should never be overbred. Overuse of these dogs increases the prevalence of the faulty gene in the population, making it more difficult for future generations to breed without the risk of producing affected dogs.

Conduct your Research

If all breeders choose to employ carriers or affected dogs for mating, the fraction of ‘clean’ dogs could decrease as the prevalence of mutant genes grows. You can use carriers and affected, but you should always keep a sufficient supply of clear dogs. You could want to speak with health representatives at your local breed club, who will have access to summary information on the findings of DNA testing canines and can advise you appropriately on the current condition of your breed.

Any Potential Carrier puppies that are Bred Should have their DNA Tested Before Mating

Suppose you decide to produce potentially carrier puppies but are concerned that they will be used for breeding by their new owners. In that case, you may consider placing an endorsement on the puppy or including a statement in your puppy contract that any puppies used for breeding must be tested before mating. If the puppy is a carrier, it must only be mated to a clear dog.

What are Autosomal-Dominant Conditions?

An autosomal dominant disorder requires only one copy of a given allele to produce the phenotype. The abnormal trait will be manifested if an animal inherits an abnormal allele from one parent and a normal allele from the other. Affected animals may express the trait to varying degrees, but the trait will impact all animals who carry a copy of the gene. Because there are no asymptomatic carriers, autosomal dominant genetic diseases are infrequent in breeding. All damaged animals are easily identifiable and can be eliminated from breeding operations.

Polycystic kidney disease (PKD) in Persian cats is an autosomal dominant trait. Hereditary renal disorders can cause premature kidney failure and mortality in this syndrome. Historically, this illness affected up to 50% of Persian cats. After discovering that this is an autosomal dominant disorder, which means that there are no healthy carriers and that any sick cat must have at least one affected parent, meticulous breeding efforts have dramatically reduced the prevalence of this disease. Cats intended for breeding were initially tested using ultrasound; cats with normal kidneys were eligible for breeding, while cats with defective kidneys were not. Recently, DNA tests have been developed that diagnose afflicted cats with a simple cheek swab. Breeders have considerably reduced the occurrence of PKD in Persian cats by not breeding sick cats.

How are Outcomes Documented?

Tested dogs will be classified as clear, heterozygous affected, or homozygous affected on the system.


These dogs have no copies of the faulty gene linked to the ailment. These dogs are unlikely to develop this illness, and their offspring will inherit a normal gene copy.

Heterozygous Affected

These dogs have one copy of the normal gene and one copy of the aberrant gene linked to the tested condition. These dogs could pass on a copy of the faulty gene to future puppies, and they will probably be affected by the disorder.

Homozygous Affected

The faulty gene linked to the ailment tested for is present in two copies in these dogs. These dogs will most likely have the condition, and any puppies they have in the future will inherit one copy of the faulty gene from them.

Breeding Tips for Situations with Autosomal Dominance

If Your Dog is Clear

Any two clear dogs can mate without resulting in afflicted offspring. They can generate offspring that are also affected if they are crossed with a heterozygous or homozygous affected dog.

  • All puppies will be clear if you breed with a clear dog.
  • When a dog with heterozygous mutations mates, each offspring has a 50% chance of being clear and a 50% chance of having the mutation.
  • When a homozygous affected dog mates, all of the offspring will be impacted.

If Your Dog is Heterozygous Affected

Breeding from this dog may result in afflicted puppies, potentially endangering the health of the offspring.

  • When a clear dog is mated, each offspring has a 50% chance of being clear and a 50% chance of having a heterozygous condition.
  • When a heterozygous dog is mated, each puppy has a 50% chance of being heterozygous afflicted, a 25% risk of being homozygous affected, and a 25% chance of being clear.
  • When a homozygous dog is mated, there is a 50% chance that each puppy will be homozygous and a 50% chance that they will be heterozygous.

If Your Dog is Homozygous Affected

Breeding from this dog carries a significant chance of resulting in afflicted puppies, potentially endangering the health of the offspring.

  • When a clear dog is mated, all puppies will be heterozygous.
  • When a heterozygous dog is mated, there is a 50% probability that each puppy will be homozygous afflicted and a 50% chance that they will be heterozygous affected.
  • If you breed a dog with the homozygous disease, all puppies will have this condition.

Possibility of Generating Afflicted Puppies

The health and well-being of dogs would be seriously impacted by the possibility of having affected puppies who might go on to develop the illness you have tested. Never intentionally perform matings that could result in sick puppies. If this unintentional mating occurs, testing every puppy before being bred from or given to new homes is crucial. To determine the clinical care of any affected puppies, consult a veterinarian.

What are Linkage Tests?

Most DNA testing checks for a specific gene known to cause a specific ailment. Scientists often cannot discover the particular gene but can approximate its location in a dog’s genome. Because they are on the same chromosome, genes and other genetic markers are frequently inherited together. While identifying the gene causing a problem can be challenging, scientists can often locate portions of DNA that are usually connected to and inherited with the unknown gene. Breeders can determine the genetic status of their dogs with high confidence after finding these related genetic markers.

These DNA tests may not be as accurate as tests where the gene is known since they rely on the link between the marker and the disease-causing gene remaining intact. However, they can still be highly accurate, and laboratories frequently estimate their test accuracy.

What are Risk-Based Tests?

Most DNA testing checks for a specific gene known to cause a particular ailment. Certain environmental circumstances or other genetic influences can also influence whether a dog develops a problem. Having copies of the disease-causing genes does not ensure the condition will arise. Likewise, the absence of these genes does not guarantee that the disorder will not occur.

These risk-based tests are not always as reliable as other DNA tests, but they can still benefit breeders. Laboratories frequently estimate the precision of their difficulties.

What is OFA Certification?

OFA is an abbreviation for the Orthopedic Foundation for Animals. The foundation was established in 1966. Several dogs of the same breed had developed similar abnormalities, and a man named John M. Olin determined the issues could be traced back to a dog’s lineage and did not happen to some of the pups at random.

Before the widespread availability of blood-based genetic testing, one of the primary methods for tracking orthopedic disorders in dogs was through x-rays. Rather than simply testing individual dogs with their owners, the OFA Certification process began by compiling a database. The database contained information about the dog, such as the breeder, birthplace, and family ties.

The program is handled solely by the University of Missouri and has various connections to vets worldwide.

What Genetic Diseases Does OFA Cover?

The OFA Certification was initially established to detect hip dysplasia in dogs and is currently a primary source for tracking hip abnormalities. The growth of DNA testing has resulted in the monitoring of various inherited diseases. Patellar Luxations are a condition that the OFA Certification monitors in dogs with poor knees.

The OFA Certification also monitors the spread of various cardiac disorders, and early detection can help prevent serious issues in the future. Genetic testing covers hypothyroidism as well. This illness can cause a hormonal imbalance in dogs, leading to issues later in life.

How Early Should My Dog Have OFA Certification?

Many genetic illnesses may not manifest physically until years later when the damage worsens or treatment choices have become restricted. Ideally, you should test and certify your dog as soon as possible. Hypothyroidism, for example, may be identified in a dog at a young age and cured before any symptoms appear.

Hypothyroidism can cause problems such as weight gain and blood sugar difficulties if a dog does not receive therapy. A dog will obtain a probability score based on past genetics through genetic testing. If the dog’s parents went through the OFA certification process, the information might also be used to create results.

With so many intricate subtleties in genetics, no solution is ever black and white. In the case of hip dysplasia, genetic results will generally range from Excellent to Severe. An Excellent rating indicates that your dog’s genetics are free of hip dysplasia. Severe genetic results are the worst sort.

The primary purpose of OFA certification is to aid in treating a dog’s health and prevent the breeding of unpleasant hereditary illnesses.

Are There Treatment Options Available?

A dog has various treatment alternatives based on the OFA certification process’s outcomes. Veterinarians can conduct surgery on puppies with hip dysplasia to repair the hip joints early and prevent complications in the future.

Complete hip replacement is one of the significant procedures. However, a triple pelvic osteotomy is another alternative for your pet. When the dog has the treatment early on, frequent hip issues in the future will be avoided. You can consult a veterinarian about the available treatments and decide on the best course of action after the OFA certification arrives.

Surgery is uncommon in those other illnesses, but the certification aids in preventative care. For instance, you might follow up with your vet regularly for x-rays and bloodwork to check your dog’s heart status if genetic tests indicate that they may have a heart issue.

A prescription will frequently assist with treatment options. Medication can aid pain management, genetic disease reversal, and hormone regulation. The first step in the procedure, the OFA certification, can help your dog live a long and fulfilling life by ensuring that the proper medical care is provided. 

Top Reasons Why Testing is Important?

One of the most acceptable methods to learn about dog breeding is to educate yourself on canine health. When making responsible decisions about a litter, numerous health tests and genetic test findings should be considered. Let’s look at the top five reasons why understanding your dog’s genetic health risk will help you care for him better and protect the future of your breed by lowering the danger of having puppies with specific health concerns.

Individual Health Risk

A healthy dam is a prerequisite for producing healthy puppies. A genetic test to help identify potential genetic concerns will be added to the individual physical examination and related blood work for pre-breeding health, allowing for the best possible care. DNA testing might reveal some potential health issues for the particular animal. For instance, you can find out if your dog is sensitive to a specific drug or is at risk for a particular bleeding issue, which could be helpful before any necessary surgery. An Embark for Breeders DNA kit can also test for several genetic variations that may cause bladder stones or eye diseases like PRA, which can result in blindness. When facing health issues or creating a proactive preventative care plan, having these metrics on hand to communicate with your veterinarian can be a helpful tool.

Breed-Related Health Issues

Before breeding, genetic testing can determine whether potential parents have harmful variations that could be passed on to kids. The genetic results can then be utilized to pair dogs to avoid creating at-risk puppies properly. Understanding the fundamentals of gene health testing will help you evaluate your dog’s DNA results and make informed decisions. Knowing if your dog is free of a detrimental variant, a carrier of the variant, or at risk from the variant, as well as how to use DNA test results in a breed-specific manner, will help you determine how to proceed with your breeding program.

OFA Submission Report

A breeder should perform several phenotypic health assessments on their canines before breeding. Depending on the dog breed, these veterinarian-performed examinations may include eye exams, hip x-rays, and cardiac testing. The Orthopedic Foundation for Animals (OFA) Canine Health Information Center is a comprehensive list recommended by national breed groups (CHIC). Specific DNA-based health tests are also required before receiving a CHIC registration number.

Inbreeding Coefficient

It is critical to have genetic diversity in your breed and breeding program. The most precise approach for measuring inbreeding, which can contribute to reduced litter sizes and shorter longevity, is Embark’s genetic Coefficient of Inbreeding (COI). Genetic COI, instead of pedigree-based COI estimates, examines your dog’s DNA to see which fraction is identical, showing the percentile of inbreeding. When compared to the most extensive pedigree study, genetic COI can find inbreeding further back by examining over 230,000 genetic markers.

Characteristics Education

Knowing your dog’s genotypes for qualities such as body size, other body features such as nose length, coat color, other coat aspects such as furnishings, and performance is also something to think about before mating. This beneficial Traits List for Breeders displays all of the possible genotypes supplied by Embark testing and how to interpret the results. Before breeding, recording the sire and dam genotypes might assist in predicting outcomes such as the expected coat color of your puppies. 

This is especially important to consider if you display dogs required by the breed standard to have specific coat colors and patterns. Learning about coat color genetics and their impact on phenotypic has the extra benefit of helping you understand what health concerns may be connected with different colors or patterns like merle. Learning about other coat color modifiers, such as white spotting, roan, and saddle tan, can also be complex but fascinating and entertaining to interpret.

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