Osteochondrodysplasia (OCD) is an inherited musculoskeletal disorder affecting Standard Poodles, Miniature Poodles, Toy Poodles, and associated breeds. Symptoms for affected dogs will typically present at about 3 weeks of age characterized by stunted growth and abnormal locomotion. Affected puppies will walk differently than unaffected littermates due to the development of abducted or splayed hind limbs and front feet turned out with deformed paws. These dogs can have enlarged joints and clubbed feet with short, bent legs. Additionally, these dogs may exhibit flattened rib cages and under-bites that can affect their ability to nurse or breathe. With supportive care, affected dogs can survive for several years but will likely develop arthritis and breathing difficulty due to a deformed rib cage.

• Standard Poodle
• Miniature Poodle
• Toy Poodle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop OCD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop OCD but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are likely to develop skeletal issues including splayed and shorter limbs, flattened rib cages, and under-bites.

Persistent Mullerian Duct Syndrome (PMDS) is a sexual development disorder affecting Miniature Schnauzers in which parts of the female reproductive tract develop in male dogs. Approximately half of the affected dogs will develop normal testes and retain fertility but will have internal remnants of female reproductive organs. The other half of affected dogs will suffer from cryptorchidism also known as undescended testicles. They will lack fertility and potentially suffer from an increased risk of testicular tumors and small testes. Some of these dogs will exhibit normal external genitalia making it easy to misdiagnosis PMDS as the cause of cryptorchidism. Male dogs that suffer from PMDS may require a hysterectomy if the uterus becomes infected. Female dogs are not affected by this disease and will have normal internal and external female anatomy.

• Miniature Schnauzer

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PMDS nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PMDS but will, if bred, pass the mutation to 50% of its offspring, on average.

The canine multifocal retinopathy mutation causes raised lesions to form on the retina which alters the
appearance of the eye but usually does not affect sight. The lesions may disappear, or may result in
minor retinal folding. Symptoms of the mutation usually appear when a puppy is only a few months old,
and generally do not worsen over time. The genetic test for CMR is valuable for identifying the cause of
a retinal deformation. Given the exact genetic diagnosis, the owner can be reassured that there
probably will be little or no vision loss due to this condition. While the CMR1, CMR2 and CMR3
mutations are in the same gene, they are breed specific and testing for only one is required. The CMR3
mutations is specific for the Lapponian Herder breed. The CMR2 mutation is specific for the Coton de
Tulear breed. All other breeds should test for the CMR1 mutation.

• Lapponian Herder

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CMR
disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the
mutation associated with this disease. They will not develop CMR disorder but will, if bred, pass the
mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are
susceptible to develop retinal deformation.

Brachycephaly is a skull shape trait seen in a number of breeds and is characterized by a shortened
head, pushed in face, and typically an underbite with widely spaced shallow orbits. Breeds known to
exhibit this trait include Pugs, Boxers, Bulldogs and Boston Terriers. The overall shape and size of a
dog’s skull is likely the result of multiple genetic factors with a mutation in the BMP3 gene being one
factor contributing to a short muzzle. BMP3 is also suspected to be essential for normal craniofacial
development with mutations in this gene likely leading to abnormal craniofacial development. This
mutation is typically fixed or carried in two copies in breeds such as Pug, Pekingese, French Bulldog,
Brussels Griffon and Boston Terriers. Additional mutations such as SMOC2 are currently being studied
to determine their effect on skull development and brachycephaly.

• Boston Terrier
• Brussels Griffon
• Bulldog
• Chihuahua
• French Bulldog
• Jack Russell Terrier
• Japanese Chin
• Miniature Poodle
• Miniature Schnauzer
• Norwich Terrier
• Pekingese
• Pembroke Welsh Corgi
• Pomeranian
• Pug
• Scottish Terrier
• Shih Tzu
• Staffordshire Bull Terrier
• Sussex Spaniel
• Teddy Roosevelt Terrier
• Tosa Inu

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will likely not have a short
muzzle length nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the
mutation associated with this trait. They will likely not have a short muzzle length but will, if bred, pass
the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with short muzzle length
in some breeds.

Progressive Retinal Atrophy (PRA) is a category of disorders where the retinal cells in a dog’s eye degenerate and die eventually leading to complete blindness. A type of PRA specific to Lapponian Herders is due to a mutation in the IFT122 gene that leads to adult-onset eye disease. Symptoms will typically appear on average at 5 years old and is usually diagnosed anywhere from 5 to 12 years of age. Initial symptoms include vision difficulties in dim light often referred to as night blindness. As the disease progresses, the affected dog will continue to suffer loss of night vision which then progresses to visual deficits in brighter light and can eventually lead to total blindness. It is important to note that not all cases of PRA in Lapponian Herders are caused by this particular mutation.

• Lapponian Herder

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop progressive retinal atrophy nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop progressive retinal atrophy but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and will likely develop progressive retinal atrophy.

Imerslund-Grasbeck Syndrome (IGS), also known as intestinal cobalamin malabsorption is a disorder in which a dog is unable to absorb adequate levels of Vitamin B12. Absorption of Vitamin B12, also known as cobalamin, which occurs in the small intestine is inadequate in dogs affected with IGS and leads to a deficiency in this vitamin. Dogs that inherit this disease are born with a small amount of vitamin B12 that is quickly depleted and leads to symptoms of the disease within 6-12 weeks after birth. These symptoms can include failure to thrive and gain weight, lack of appetite, anemia and lethargy. Symptoms will typically appear to intensify after eating. IGS can be managed with regular vitamin B12 diet supplementation, however without treatment this disease can progress to permanent brain and nervous system damage.

• Beagle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop intestinal cobalamin malabsorption nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop intestinal cobalamin malabsorption but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing intestinal cobalamin malabsorption.

Severe Combined Immunodeficiency (SCID) is an inherited condition that affects a dog’s ability to fight infection. These dogs are not able to produce a protein important for proper immune function which predisposes them to severe and recurring bacterial, viral and fungal infections. Symptoms of the disease typically present around 12 to 14 weeks of age and can include active infections of the skin, eye or ear. Additional symptoms can include poor growth, lethargy, failure to thrive, weight loss, diarrhea and vomiting. Pathology testing will typically show very low white blood cell count and low or no IgM antibodies in serum. Affected dogs will typically die by 4 months of age due to recurring infection.

• Jack Russell Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop severe combined immunodeficiency nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop severe combined immunodeficiency but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and will likely develop severe combined immunodeficiency.

Canine Leukocyte Adhesion Deficiency (CLAD) is an inherited condition that is due to abnormal white blood cells or leukocytes that impair the ability of a dog’s immune system to respond to infection. Dogs will typically develop symptoms at less than 12 weeks of age and can include umbilical infection, fever, poor growth and insufficient wound healing. Additional symptoms can include infection of the gums with salivation and abnormal skin infections. Pathology testing will typically show a high white blood cell count because cells are still produced but are unable to move into tissue to fight infection. Infections will respond to antibiotics but can reoccur once treatment is stopped so puppies will typically die by 6 months of age.

• Irish Setter

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop canine leukocyte adhesion deficiency nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop canine leukocyte adhesion deficiency but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and will likely develop canine leukocyte adhesion deficiency.

Early Onset Progressive Retinal Atrophy (EO-PRA) is an inherited eye disease that affects the Spanish Water Dog breed. This disease is caused by degeneration of retinal photoreceptor cells which are used for vision in both dim and bright light. Symptoms of the disease present early with vision issues becoming apparent at approximately 1 year of age. The disease gradually progresses with significant vision loss by approximately 4-5 years of age. Dogs will initially experience reduced vision in dim light (also known as night blindness) and can also include issues with peripheral vision. As the disease progresses, dogs will eventually start to experience reduced vision in brighter light. Physical signs of the disease can be observed during a veterinary eye exam.

• Spanish Water Dog

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop early onset progressive retinal atrophy nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop early onset progressive retinal atrophy but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing early onset progressive retinal atrophy.

Spinocerebellar Ataxia (SCA) is an inherited neurologic disease with symptoms generally appearing between two to six months of age. Initial symptoms can include loss of balance and difficulties with coordination when walking or running. These symptoms are progressive and problems with movement coordination typically worsen with disease progression. Additional symptoms can include episodes of involuntary muscle twitching known as myokomia which can also progress and worsen with age resulting in over-heating. Affected dogs may even experience true epileptic seizures. The typical prognosis for SCA is not good and dogs suffering from the disease are typically recommended for euthanasia due to a poor quality of life.

• Basenji
• Chihuahua
• Jack Russell Terrier
• Parson Russell Terrier
• Russell Terrier
• Smooth Fox Terrier
• Tenterfield Terrier
• Toy Fox Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop spinocerebellar ataxia nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop spinocerebellar ataxia but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing spinocerebellar ataxia.

Progressive Retinal Atrophy (PRA) is a category of disorders where the retinal cells in a dog’s eye degenerate and die eventually leading to complete blindness. A type of PRA specific to Shetland Sheepdogs is due to a mutation in the CNGA1 gene that leads to adult-onset eye disease. Symptoms will typically appear on average around 5 years old but can present anywhere from 2 to 11 years of age. Initial symptoms include vision difficulties in dim light often referred to as night blindness. As the disease progresses, the affected dog will continue to suffer loss of night vision which then progresses to visual deficits in brighter light and can eventually lead to total blindness. It is important to note that not all cases of PRA in Shetland Sheepdogs are caused by this mutation.

• Shetland Sheepdog

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop progressive retinal atrophy nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop progressive retinal atrophy but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing progressive retinal atrophy.

Imerslund-Grasbeck Syndrome (IGS), also known as intestinal cobalamin malabsorption is a disorder in which a dog is unable to absorb adequate levels of Vitamin B12. Absorption of Vitamin B12, also known as cobalamin which occurs in the small intestine is inadequate in dogs affected with IGS and leads to a deficiency in this vitamin. Dogs that inherit this disease are born with a small amount of vitamin B12 that is quickly depleted and leads to symptoms of the disease within 6-12 weeks after birth. These symptoms can include failure to thrive and gain weight, lack of appetite, anemia and lethargy. Symptoms will typically appear to intensify after eating. IGS can be managed with regular vitamin B12 diet supplementation, however without treatment this disease can progress to permanent brain and nervous system damage.

• Border Collie

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop intestinal cobalamin malabsorption nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop intestinal cobalamin malabsorption but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing intestinal cobalamin malabsorption.

Neuroaxonal Dystrophy in Spanish water dogs (NAD-SWD) is a progressive neurological disease that typically presents between 6 months to 1 year of age. Affected dogs show symptoms including an abnormal gait, incontinence, and potential behavioral changes with some dogs also displaying vision loss and decreased muscle tone. There is no known treatment for this rapidly progressing disease and affected dogs are typically euthanized within a year of diagnosis.

• Spanish Water Dog

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop neuroaxonal dystrophy nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop neuroaxonal dystrophy but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing neuroaxonal dystrophy.

Spongy degeneration with cerebellar ataxia (SDCA1) is a neurodegenerative disease affecting Belgian Shepherd breeds. The mutation causes an interruption in potassium channels that leads to a potassium accumulation and subsequent neurological attacks. Symptoms of this disease can appear between 4-8 weeks of age and are characterized by loss of stability, stumbling, falling and tremors. Dogs will typically show a weakness in their hind limbs and the disease symptoms can be triggered by exercise or stress situations. There is no known treatment available to prevent disease progression and puppies susceptible to this disease are typically euthanized soon after symptoms are detected.

• Belgian Shepherd
• Belgian Groenendael
• Belgian Laekenois
• Belgian Malinois
• Belgian Tervueren
• Dutch Shepherd

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop cerebellar ataxia nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop cerebellar ataxia but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are likely to develop cerebellar ataxia.

Microphthalmia (MAC) is a genetic disease that results in abnormally small eyes at birth due to a vitamin A deficiency during gestation. Malformations of different parts of the eye can eventually lead to vision loss. These eye abnormalities are evident soon after birth and can be observed by a veterinarian during an eye exam which can determine the level of vision impairment. This disease is inherited in a recessive manner with what is known as maternal effect. This means that a dog must have two copies of the mutation and be born to a mother that also has two copies of the mutation to suffer symptoms of the disease. This is due to the fact that the vitamin A supply to the fetus is impaired by the affected mother. Dogs with two copies of the mutation born to a mother that carries one copy of the mutation will likely not develop symptoms of this disease.

• Soft-Coated Wheaten Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop microphthalmia nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop microphthalmia but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing microphthalmia if they are born to a mother that carries two copies of the mutation.

Deafness with vestibular dysfunction (DINGS) is a neurological disorder resulting from incorrect inner ear development that prevents transmission of sounds from the ear to the brain. The disorder is also characterized by vertigo or dizziness with balance issues or issues with spatial orientation. Puppies affected with DINGS typically display head tilting and loss of balance and are typically described as “bobble-headed”. Symptoms which can vary from mild to severe can be seen in puppies with early onset in the first few weeks. A BAER hearing test from your veterinarian can provide more information as to the degree of deafness and disease impact. It is important to note that there are two mutations known as DINGS1 and DINGS2 that can result in similar symptoms with DINGS1 presenting as unilateral deafness and DINGS2 presenting as bilateral deafness.

• Doberman Pinscher

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop deafness with vestibular dysfunction nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop deafness with vestibular dysfunction but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing deafness with vestibular dysfunction.

Deafness with vestibular dysfunction (DINGS) is a neurological disorder resulting from incorrect inner ear development that prevents transmission of sounds from the ear to the brain. The disorder is also characterized by vertigo or dizziness with balance issues or issues with spatial orientation. Puppies affected with DINGS typically display head tilting and loss of balance and are typically described as “bobble-headed”. Symptoms which can vary from mild to severe can be seen in puppies with early onset in the first few weeks. A BAER hearing test from your veterinarian can provide more information as to the degree of deafness and disease impact. It is important to note that there are two mutations known as DINGS1 and DINGS2 that can result in similar symptoms with DINGS1 presenting as unilateral deafness and DINGS2 presenting as bilateral deafness.

• Doberman Pinscher

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop deafness with vestibular dysfunction nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop deafness with vestibular dysfunction but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing deafness with vestibular dysfunction.

Laryngeal paralysis (LP) is a genetic disorder that results in breathing difficulties which can be made worse by physical activity and may lead to suffocation in severe cases. The condition may require surgery to alleviate breathing difficulties. Symptoms of the disease can include a respiratory murmur, wheezing, reduced tolerance for exercise, voice impairment, difficulty breathing and collapsing events in severe cases. In some cases, the respiratory difficulties can be fatal. A mutation has been identified in the Bull Terrier and Miniature Bull Terrier breeds that constitutes a major risk factor and can be used to diagnosis an early onset form of laryngeal paralysis in these breeds. Dogs carrying two copies of the mutation are considered to be at an increased risk of developing the disease.

• Bull Terrier
• Miniature Bull Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop laryngeal paralysis nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop laryngeal paralysis but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing laryngeal paralysis.

Many dog breeds are defined by the presence of shortened legs that result from abnormal growth of cartilage and changes in the structure of growth plates. This leads to shortened leg bones that exhibit a bowed appearance. Two conditions have been described that cause shortened legs and are known as Chondrodysplasia (CDPA) and Chondrodystrophy (CDDY). CDDY is the second mutation that leads to shorter legs and more importantly can also put a dog at risk for premature degeneration of intervertebral discs known as Intervertebral Disc Disease (IVDD). The intervertebral disc sits between the vertebrae and allows for flexibility of the vertebral column. In dogs that carry the CDDY mutation, premature calcification can lead to degeneration of discs in dogs at a young age resulting in herniation, inflammation, and hemorrhage in the spinal cord. This can ultimately lead to severe pain and neurological dysfunction typical for IVDD.

• Basset Hound
• Beagle
• Bichon Frise
• Cardigan Welsh Corgi
• Cavalier King Charles Spaniel
• Chesapeake Bay Retriever
• Chihuahua
• Chinese Crested
• American Cocker Spaniel
• Coton de Tulear
• Dachshund
• Dandie Dinmont Terrier
• English Springer Spaniel
• French Bulldog
• Havanese
• Jack Russell Terrier
• Miniature Dachshund
• Nova Scotia Duck Tolling Retriever
• Pekingese
• Pembroke Welsh Corgi
• Poodle (Miniature and Toy)
• Portuguese Water Dog
• Sealyham Terrier
• Scottish Terrier
• Shih Tzu
  
• Teddy Roosevelt Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and do not possess the mutation that leads to shortened legs and increased IVDD risk

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with shortened legs and increased IVDD risk. They will have shortened legs and are at risk for IVDD. If bred, these dogs will pass the mutation to 50% of their offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with shortened legs and increased IVDD risk. They will have shortened legs and are at risk for IVDD. If bred, these dogs will pass the mutation to 100% of their offspring, on average.

Many dog breeds are defined by the presence of shortened legs that result from abnormal growth of cartilage and changes in the structure of growth plates. This leads to shortened leg bones that exhibit a bowed appearance. Two conditions have been described that cause shortened legs and are known as Chondrodysplasia (CDPA) and Chondrodystrophy (CDDY). CDPA is caused by a mutation in a bone development gene on chromosome 18 called FGF4. This mutation is very common in breeds such as Basset Hound, Welsh Corgi, Dachshund, West Highland White Terrier and Scottish Terrier and is inherited in a dominant fashion. This means a dog only needs to inherit one copy of the mutation to exhibit shortened legs. This mutation has also been reported to explain shortened legs in other breeds currently including Jack Russel Terriers, Dandie Dinmont Terriers, French Bulldogs, Chihuahua, Chinese Crested, Pekingese, Shih Tzu, Havanese, Coton de Tulear, Bichon Frise, Miniature and Toy Poodle, Beagle, Cavalier King Charles Spaniel, English Springer Spaniel, American Cocker Spaniel, Portuguese Water Dog, Nova Scotia Duck Tolling Retriever or Chesapeake Bay Retriever.

• Basset Hound
• Beagle
• Bichon Frise
• Cardigan Welsh Corgi
• Cavalier King Charles Spaniel
• Chesapeake Bay Retriever
• Chihuahua
• Chinese Crested
• American Cocker Spaniel
• Coton de Tulear
• Dachshund
• Dandie Dinmont Terrier
• English Springer Spaniel
• French Bulldog
• Havanese
• Jack Russell Terrier
• Miniature Dachshund
• Nova Scotia Duck Tolling Retriever
• Pekingese
• Pembroke Welsh Corgi
• Poodle (Miniature and Toy)
• Portuguese Water Dog
• Scottish Terrier
• Shih Tzu
  
• Teddy Roosevelt Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and do not possess the mutation that leads to shortened legs.

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with shortened legs. They will have shortened legs and, if bred, will pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with shortened legs. They will have shortened legs and, if bred, will pass the mutation to 100% of its offspring.

Dilated Cardiomyopathy (DCM) causes the heart to dilate to improve output which prevents heart muscle cells from contracting normally. The dilation seen during disease progression leads to increased pressure within the heart and eventual heart failure. Almost half of dogs diagnosed with this disease do not survive beyond a few months. A second mutation called DCM2 has been identified. Dogs carrying both the DCM1 and DCM2 mutations are at highest risk for the disease. Although testing for the DCM1 and DCM2 mutations can be used as a guide for diagnosing the disease, it is recommended to use echocardiogram testing at 1 – 2 years along with a baseline Holter monitor test to confirm disease presence and progression. It is also recommended that dogs in breeding programs be physically tested every six months to determine disease status.

It is important to note that both the DCM1 and DCM2 mutations are autosomal dominant with variable penetrance which means that only one copy of the mutated gene is necessary to cause DCM but due to its variable penetrance some positive dogs may never develop signs of the disease. It has been shown that dogs carrying a copy of both mutations (DCM1 and DCM2) are at highest risk for disease progression.

• Doberman Pinscher

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop DCM nor pass this mutation to their offspring.

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They can develop DCM and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which can result in DCM disease progression. It is important to note that the presence or absence of the additional DCM1 mutation can affect a dog’s chances of disease progression.

Copper Toxicosis (Labrador Retriever Type) is an inherited metabolic disease in Labrador Retrievers that can potentially lead to chronic liver failure. Dogs suffering from the disease will have a reduced ability to excrete dietary copper from the body resulting in excessive copper storage in organs such as the liver and tissues which can result in damage and eventually liver cirrhosis. The age of onset and disease progression can vary. Many dogs will exhibit symptoms around middle age consisting of weight loss, weakness, lethargy, vomiting, diarrhea and abdominal pain. As the disease progresses, affected dogs may develop signs of liver failure including abdominal swelling, jaundice and neurological dysfunction.

It has been determined that a mutation in the ATP7B gene is one of the causes of Copper Toxicosis in Labrador Retrievers. Dogs that inherit two clear copies of the gene lacking the mutation are more likely to maintain normal levels of copper in their liver and tissues. Dogs that inherit one copy of the mutation will typically display slightly to moderately elevated levels of copper in their liver and tissues. Dogs that inherit two copies of the mutation and hence lack a normal copy of the gene, will typically exhibit the highest levels of copper accumulation in the liver and tissues. Although dogs inheriting two copies of the mutation are at higher risk for disease progression, it is important to note that there have been reports of dogs with one copy of the mutation that exhibit copper levels similar to dogs with two copies of the mutation.

In addition to the disease-causing mutation in the ATP7B gene, there also exists a second mutation in the ATP7A gene that acts in an opposite fashion to minimize copper accumulation in the liver and tissues. The presence of the ATP7A mutation can be thought of as potentially decreasing the effect of the ATP7B disease mutation. The ATP7A gene is located on the X chromosome (i.e., sex-linked) which means male dogs can inherit only a single copy of the ATP7A gene while females inherit two copies of the ATP7A gene. Males that inherit one copy of the ATP7A mutation see reduced copper levels, while females require inheritance of two copies of the mutation to see a benefit in copper level reductions. Females are more commonly diagnosed with this disease due to the mode of sex-linked inheritance for the ATP7A mutation. Because there are multiple factors contributing to Copper Toxicosis in Labradors, dogs inheriting the ATP7A mutation may still be at risk of Copper Toxicosis if they have also inherited the ATP7B gene mutation or other unknown mutations.

For additional resources on Copper Toxicosis in Labradors please visit the following site:  https://www.caryunkelbach.com/copper-toxicosis-in-labrador-retrievers-ongoing-research-and-updated-information/.

• Labrador Retriever

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop Copper Toxicosis due to this mutation nor pass this mutation to their offspring.

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. These dogs will typically display slightly to moderately elevated levels of copper in their liver and can display symptoms of the disease.  Effects of this mutation may be reduced based on the dog’s genetic status for the ATP7A mutation.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and will typically exhibit the highest levels of copper accumulation in the liver. Effects of this mutation may be reduced based on the dog’s genetic status for the ATP7A mutation.

Copper Toxicosis (Labrador Retriever Type) is an inherited metabolic disease in Labrador Retrievers that can potentially lead to chronic liver failure. Dogs suffering from the disease will have a reduced ability to excrete dietary copper from the body resulting in excessive copper storage in organs such as the liver and tissues which can result in damage and eventually liver cirrhosis. The age of onset and disease progression can vary. Many dogs will exhibit symptoms around middle age consisting of weight loss, weakness, lethargy, vomiting, diarrhea and abdominal pain. As the disease progresses, affected dogs may develop signs of liver failure including abdominal swelling, jaundice and neurological dysfunction.

It has been determined that a mutation in the ATP7B gene is one of the causes of Copper Toxicosis in Labrador Retrievers. Dogs that inherit two clear copies of the gene lacking the mutation are more likely to maintain normal levels of copper in their liver and tissues. Dogs that inherit one copy of the mutation will typically display slightly to moderately elevated levels of copper in their liver and tissues.  Dogs that inherit two copies of the mutation and hence lack a normal copy of the gene, will typically exhibit the highest levels of copper accumulation in the liver and tissues. Although dogs inheriting two copies of the mutation are at higher risk for disease progression, it is important to note that there have been reports of dogs with one copy of the mutation that exhibit copper levels similar to dogs with two copies of the mutation.

In addition to the disease-causing mutation in the ATP7B gene, there also exists a second mutation in the ATP7A gene that acts in an opposite fashion to minimize copper accumulation in the liver and tissues. The presence of the ATP7A mutation can be thought of as potentially decreasing the effect of the ATP7B disease mutation. The ATP7A gene is located on the X chromosome (i.e., sex-linked) which means male dogs can inherit only a single copy of the ATP7A gene while females inherit two copies of the ATP7A gene. Males that inherit one copy of the ATP7A mutation see reduced copper levels, while females require inheritance of two copies of the mutation to see a benefit in copper level reductions. Females are more commonly diagnosed with this disease due to the mode of sex-linked inheritance for the ATP7A mutation. Because there are multiple factors contributing to Copper Toxicosis in Labradors, dogs inheriting the ATP7A mutation may still be at risk of Copper Toxicosis if they have also inherited the ATP7B gene mutation or other unknown mutations.

For additional resources on Copper Toxicosis in Labradors please visit the following site:  https://www.caryunkelbach.com/copper-toxicosis-in-labrador-retrievers-ongoing-research-and-updated-information/.

• Labrador Retriever

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and do not possess the ATP7A mutation that reduces copper levels due to the ATP7B mutation. These dogs will also not pass the beneficial ATP7A mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the ATP7A mutation associated with reduced copper levels in this disease. They will not benefit from this mutation but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies (females) or one copy (males) of the ATP7A mutation and will likely see a reduced copper level and symptom reduction in dogs that have the ATP7B mutation as compared to dogs that do not have the ATP7A mutation.

Progressive retinal atrophy (PRA) is a category of different progressive conditions leading to retinal atrophy and potential blindness. Cardigan Welsh Corgi, Pembroke Welsh Corgi, Chinese Crested and Pomeranian breeds can be affected by a particular type of PRA known as PRA-RCD3. Disease symptoms can present as early as 1 year old or earlier and are typically observed during an eye exam. The rod cells of the eye which are responsible for vision in low-light (night time) show gradual deterioration and the dog rapidly exhibits “night blindness” which is typically seen as a gradual inability for the dog to go outside at night due to loss of night vision. At approximately 2-3 years of age, the dog’s cone cells begin to degenerate. The disease continues to progress leading to a loss of color vision and vision in bright light and eventually results in complete blindness.

• Cardigan Welsh Corgi
• Pembroke Welsh Corgi
• Chinese Crested
• Pomeranian

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PRA due to the PRA-RCD3 mutation nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PRA due to the PRA-RCD3 mutation but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in night blindness followed by loss of color vision in bright light and eventual complete blindness.

Progressive retinal atrophy (PRA) is a category of different progressive conditions leading to retinal atrophy and potential blindness. Three separate mutations (PRA-PRCD, GR-PRA1 and GR-PRA2) have been identified to date that can lead to PRA in Golden Retrievers. Golden Retriever Progressive Retinal Atrophy 2 (GR-PRA2) is a late-onset inherited eye disease that typically shows clinical symptoms including retinal degeneration at approximately 5 years of age with variation in the age of onset. Primary clinical signs of the disease include changes in reflectivity and appearance of a structure behind the retina that can be diagnosed through a veterinary eye exam. Disease progression can include thinning of the retinal blood vessels leading to decreased blood flow to the retina. Dogs affected by GR-PRA2 initially have loss of vision in dim light (also known as night blindness) followed by loss of peripheral vision with eventual progression to complete blindness in most affected dogs.

• Golden Retriever

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PRA due to the GR-PRA2 mutation nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PRA due to the GR-PRA2 mutation but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which will likely result in loss of vision in dim light with eventual progression to complete blindness.

Glaucoma is a painful and potentially blinding disease associated with high eye pressure that can be caused by an improper drainage system within the eye. Lack of fluid drainage can lead to increased fluid pressure inside the eye and subsequent damage to the optic nerve potentially leading to a total loss of vision. Symptoms of the disease can include severe pain, light sensitivity, eye spasms and watery eyes. Dogs suffering from the condition may display behaviors such as hiding, refusal to eat and defensive head movements in response to painful symptoms. It is important to note that the test offered detects a ‘candidate’ mutation that has been strongly associated with glaucoma in Border Collies but will require additional research to demonstrate a conclusive connection to the disease. Nevertheless, the current ‘candidate” mutation test can provide value in assisting with breeding decisions.

• Border Collie

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop BCG nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop BCG but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which will likely result in eye drainage issues, pressure buildup within the eye and potential loss of vision.

Lethal Acrodermatitis (LAD) is a severe skin condition affecting Bull Terriers and Miniature Bull Terriers that is caused by reduced zinc absorption and leads to impaired development, immune deficiency and characteristic skin lesions. These lesions appear as swelling on the muzzle and around the eyes and ears. Dogs affected by this condition will also exhibit hard, cracked and crusted skin lesions particularly on their feet and footpads. Symptoms may also include pneumonia and diarrhea. Affected dogs may also show signs of coat color dilution in pigmented skin areas. Symptoms typically appear starting in the first week and puppies can show a slower growth rate and appear weak and inactive. Within one year, affected puppies will also appear about half the weight and size of a healthy dog. The disease can progress quickly with dogs typically not living beyond two years of age.

• Bull Terrier
• Miniature Bull Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop LAD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop LAD but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in a severe skin condition with swelling and cracked skin lesions.

Dry Eye Curly Coat Syndrome (CKCSID) is a genetic disorder that affects the Cavalier King Charles Spaniel breed. Symptoms of the disease can be seen at birth and includes abnormal hair, eye and nail development. The dog’s coat will appear curly and rough and a severe reduction in the amount of tears will be observed. The dog’s skin and footpads can appear thickened also known as hyperkeratinization and there is an increased risk for dental disease. CKCSID may also be referred to as Congenital Keratoconjunctivitis Sicca or Ichthyosiform Dermatosis.

• Cavalier King Charles Spaniel

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CKCSID nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CKCSID but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in abnormal hair, eye and nail development from birth.

Episodic Falling (EF) is a neurological disorder that affects the Cavalier King Charles Spaniel breed. Typically, symptoms are observed starting at approximately 14 weeks to 4 years of age but have been observed in younger and older dogs. Symptoms can range from occasional falling to freezing or seizure-like episodes that can last from minutes to hours. The episode severity can vary as the dog ages and the attacks appear to have no standard pattern. Symptoms are typically triggered by excitement, exercise or stress and are observed as an increase in muscle tone or stiffness in the dog’s limbs which can cause the dog to collapse during an episode. The disease can also be referred to as Exercise-Induced Paroxysmal Hypertonicity, Falling Cavaliers and Collapsing Cavalier Syndrome.

• Cavalier King Charles Spaniel

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop EF nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop EF but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in episodic falling syndrome with seizure-like episodes.

Progressive retinal atrophy (PRA) is a category of different progressive conditions leading to retinal atrophy and potential blindness. Cone-Rod dystrophy 4 (PRA-CORD1-CRD4) is an inherited eye disease affecting Dachshunds and English Springer Spaniels that leads to degeneration of both retinal rod and cone cells affecting vision in both low and bright light. Onset of symptoms can be seen starting at less than a year old until about 5 years of age with the average being around 3 years of age. However, the onset can vary significantly with dogs as old as 15 years being diagnosed. This mutation shows what is known as incomplete penetrance which means dogs that test At Risk/Affected may not develop symptoms of the disease which would suggest other factors (genetic and environmental) may play a role in disease progression. Following diagnosis, the disease can progress slowly but typically leads to complete blindness.

• English Springer Spaniel
  
• Dachshund
  
• Miniature Long-Haired Dachshund
  
• Miniature Wire-Haired Dachshund
  
• Miniature Smooth-Haired Dachshund
  

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PRA-CORD1-CRD4 progressive retinal atrophy nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PRA-CORD1-CRD4 progressive retinal atrophy but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to developing progressive retinal atrophy.

Von Willebrand disease (vWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of vWD have been identified in dogs to date and are known as vWD type 1, 2 and 3. Within these three types there are five different genetic mutations that are currently known that lead to canine vWD. Von Willebrand’s disease type 3 (VWD3) is a very severe form of the disease in which affected animals produce no von Willebrand Factor protein in their blood. This condition makes affected dogs likely to suffer from abnormal and severe bleeding which can lead to life threatening consequences in common minor injuries or surgical procedures.

Shetland Sheepdog

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop von Willebrand’s Disease Type III disease nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop von Willebrand’s Disease Type III disease but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop severe problems with blood clotting.

Von Willebrand disease (vWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of vWD have been identified in dogs to date and are known as vWD type 1, 2 and 3. Within these three types there are five different genetic mutations that are currently known that lead to canine vWD.  Von Willebrand’s disease type 3 (VWD3) is a very severe form of the disease in which affected animals produce no von Willebrand Factor protein in their blood.  This condition makes affected dogs likely to suffer from abnormal and severe bleeding which can lead to life threatening consequences in common minor injuries or surgical procedures.

• Scottish Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop von Willebrand’s Disease Type III disease nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop von Willebrand’s Disease Type III disease but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop severe problems with blood clotting.

Dilated Cardiomyopathy (DCM) causes the heart to dilate to improve output which prevents heart muscle cells from contracting normally.  The dilation seen during disease progression leads to increased pressure within the heart and eventual heart failure.  Almost half of dogs diagnosed with this disease do not survive beyond a few months.  Although testing for the DCM1 mutation can be used as a guide for diagnosing the disease, it is recommended to use echocardiogram testing at 1 – 2 years along with a baseline Holter monitor test to confirm disease presence and progression.  It is also recommended that dogs in breeding programs be physically tested every six months to determine disease status.

It is important to note that the DCM1 mutation is autosomal dominant with variable penetrance which means that only one copy of the mutated gene is necessary to cause DCM but due to its variable penetrance some positive dogs may never develop signs of the disease. It is also important to note that there are at least two genetic mutations responsible for DCM in the Doberman.

• Doberman Pinscher

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop DCM due to the DCM1 mutation nor pass this mutation to their offspring.

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They can develop DCM and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which can result in heart dilation and eventual heart failure.

Von Willebrand disease (vWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of vWD have been identified in dogs to date and are known as vWD type 1, 2 and 3. Within these three types there are five different genetic mutations that are currently known that lead to canine vWD.  Von Willebrand’s disease type 2 (VWD2) disease can result in a dog that displays a normal level of von Willebrand factor protein production but with reduced protein function that can lead to blood clotting complications.

• Collie
  
• Chinese Crested
  
• Deutsch Drahthaar
  
• German Longhaired Pointer
  
• German Shorthaired Pointer
  
• German Wirehaired Pointer

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop von Willebrand’s Disease Type II disease nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop von Willebrand’s Disease Type II disease but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop difficulties with blood clotting.

Von Willebrand disease (vWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of vWD have been identified in dogs to date and are known as vWD type 1, 2 and 3. Within these three types there are five different genetic mutations that are currently known that lead to canine vWD. Von Willebrand’s disease type 3 (VWD3) is a very severe form of the disease in which affected animals produce no von Willebrand Factor protein in their blood. This condition makes affected dogs likely to suffer from abnormal and severe bleeding which can lead to life threatening consequences in common minor injuries or surgical procedures.

• Kooikerhondje

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop von Willebrand’s Disease Type III disease nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop von Willebrand’s Disease Type III disease but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop severe problems with blood clotting.

Ichthyosis-A (ICT-A) is a skin disease (dermatitis) seen quite commonly in Golden Retrievers that causes the outer layer of the epidermis to form improperly resulting in thick and darkened skin that becomes excessively flakey. Symptoms can exhibit a range of severity from mild itching to more severe cases involving subsequent yeast or fungal infection. The disease may be detected at an early age typically between birth and 1-2 years of age. As the dog ages symptoms may improve or worsen depending on differing stress levels, hormone cycles and diet. In some cases, scale formation has been seen to decrease in older dogs. There is no current treatment for this disease beyond standard coat care for dry skin using special shampoos and conditioners.

• Golden Retriever
• Goldendoodle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop ICT-A nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop ICT-A but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in dermatitis with symptoms of dry, flaky and discolored skin.

Neuroaxonal Dystrophy (NAD) is a neurodegenerative disease that affects Papillons and Phalenes worldwide.  The disease is characterized by symptoms including head tremors, wobbling gait and inability to stand or walk.  Symptoms appear at a very young age usually between 1-4 months and is clinically characterized by severe axonal swelling with progression to cerebella ataxia, blindness and deafness with most dogs not surviving beyond 1 year of age.

• Papillon
• Phalene

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop NAD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop NAD but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in neurodegeneration and poor survival beyond 1 year of age.

Hereditary nasal parakeratosis (HNPK) is a disease that affects Labrador Retrievers and related breeds and leads to dry, rough, discolored crusts on the edges of the dog’s nose. The disease results from a mutation that causes the nose to dry out and can lead to chronic irritation and inflammation of the skin on and surrounding the dog’s nose. Symptoms of the disorder appear in young dogs typically between the ages of around 6 months to 1 year of age. In more severe cases of the disease, cracked skin around and on the tip of the nose can become infected and require medical attention. In later stages, the disease can also affect nose pigmentation with nose skin color changing from dark to lighter shades of color. Once diagnosed, continuous care is required to reduce the occurrence of crusting on and around the dog’s nose using topical treatments.

• Labrador Retriever
• Labradoodle
• Australian Labradoodle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop HNPK nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop HNPK but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in discolored crusts on the edges of the dog’s nose that can become infected and require further treatment.

Progressive retinal atrophy (PRA) in Irish Setters is an early onset inherited eye disease and can be due to more than a single mutation.   One form of PRA in Irish Setters is referred to as Rod-Cone Dysplasia Type 1 (PRA-RCD1) and occurs as a result of degeneration of both rod and cone cells of the retina which are important for vision in dim and bright light.  Symptoms can be recognized as early as a few weeks of age and progressive degeneration can continue for up to a year.  The first signs of the disease typically present around 1 month of age with vision loss in dim light also known as night blindness.  Dogs will typically show complete loss of night vision by about 5 months and difficulty with vision in bright light. Although there can be variation in disease progression, most dogs typically exhibit a rapid progression with total loss of sight by approximately 1 year of age.

• Irish Setter

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop Irish Setter PRA Type 1 nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Irish Setter PRA Type 1 and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with Irish Setter PRA Type 1 which can result in reduced vision and total loss of sight.

Progressive Retinal Atrophy (PRA) in Papillons (PAP-PRA1) is a late onset eye disorder that results in degeneration of a certain type of retinal cell which is important for low light vision. Affected dogs typically present symptoms of poor vision in dim light at approximately 4 to 6 years of age. PAP-PRA1 typically progresses slowly and can result in complete loss of vision. However, symptoms can vary with some affected dogs maintaining their daylight vision for many years and potentially the rest of their life. Ongoing research has shown that PRA in Papillons can be due to additional mutations besides the PAP-PRA1 mutation.

• Papillon

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop Papillon PRA Type 1 nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Papillon PRA Type 1 due to this particular mutation and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with Papillon PRA Type 1 which results in vision impairment in dim light, progressive vision loss and potentially complete blindness.

Collie eye anomaly (CEA) is an inherited disease that affects several dog breeds. It can also be referred to as choroidal hypoplasia (CH) due to the fact that the choroid layer of tissue is thinner in dogs suffering from the disease. This layer of tissue is responsible for supplying nutrients and blood to the retina.  With insufficient blood flow the choroid does not develop properly and can often lead to retinal detachment and subsequent blindness. The disease can present itself in both a mild and severe form with symptoms varying between affected dogs. Dogs with a mild form of the disease can show thinning of the choroid and may maintain normal vision. Dogs with a more severe version of the disease can have additional eye problems leading to significant vision loss and potentially complete blindness. Although both mild and severe forms of CEA are associated with the same mutation (NHEJ1), predicting disease severity is difficult.

• Aussiedoodle
• Australian Shepherd
• Bearded Collie
• Border Collie
• Boykin Spaniel
• Collie
• English Shepherd
• Hokkaido
• Lancashire Heeler
• Longhaired Whippet
• Miniature American Shepherd
• Miniature Australian Shepherd
• Nova Scotia Duck Tolling Retriever
• Rough Collie
• Shetland Sheepdog
• Silken Windhound
• Smooth Collie
• Toy Australian Shepherd

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CEA nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CEA and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with CEA which can result in a range of symptoms from vision impairment to complete blindness.

Progressive retinal atrophy (PRA) is a category of different progressive conditions related to ­retinal atrophy that can eventually lead to blindness. Progressive rod-cone degeneration (PRA-PRCD) is one specific type of PRA that affects many dog breeds. It is an inherited eye disease with late onset of symptoms that are due to degeneration of both rod and cone cells of the retina. These cells are important for vision in dim and bright light. Most dogs begin to show symptoms of the disease at approximately 3-5 years of age that manifests as difficulty seeing at night (night blindness) and loss of peripheral vision. Although rate of onset and disease progression can vary by breed, PRA-PRCD typically results in eventual loss of sight and complete blindness in affected dogs. It is important to note that other inherited eye disorders can display similar symptoms to PRA-PRCD.

• American Cocker Spaniel
• American Eskimo Dog
• Aussiedoodle
• Australian Cattle Dog
• Australian Labradoodle
• Australian Shepherd
• Australian Stumpy Tail Cattle Dog
• Biewer Terrier
• Boykin Spaniel
• Chesapeake Bay Retriever
• Chihuahua
• Chinese Crested
• Cockapoo
• Cocker Spaniel
• Coton De Tulear
• English Cocker Spaniel
• English Shepherd
• Entlebucher Mountain Dog
• Finnish Lapphund
• German Spitz
• Giant Schnauzer
• Golden Retriever
• Goldendoodle
• Karelian Bear Dog
• Kuvasz
• Labradoodle
• Labrador Retriever
• Lapponian Herder
• Markiesje
• Miniature American Shepherd
• Miniature Australian Shepherd
• Miniature Poodle
• Newfypoo
• Norwegian Elkhound
• Nova Scotia Duck Tolling Retriever
• Poodle
• Portuguese Water Dog
• Schipperke
• Silky Terrier
• Spanish Water Dog
• Standard Poodle
• Swedish Lapphund
• Toy Australian Shepherd
• Toy Poodle
• Yorkshire Terrier

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PRA-PRCD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PRA-PRCD and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with PRA-PRCD which typically results in complete blindness for most breeds.

Von Willebrand disease (VWD) is a genetic disorder that prevents normal blood clotting and can cause extended bleeding following injury. The disorder results from a deficiency or lack of sufficient von Willebrand factor (vWf) which functions as a binding protein during blood clotting. Three types of VWD have been identified in dogs to date and are known as VWD types 1, 2, and 3. Within these three types there are five different genetic mutations that are currently known that lead to canine VWD.

Von Willebrand’s disease type 1 (VWD1) results in reduction in normal levels of VWf to approximately 5-10% of normal. Since some vWf is produced in dogs homozygous for the VWD1 mutation, this form of the disorder is considered to be less serious than type 2 and 3. The mutation (G>A substitution) has variable penetrance and is recessive requiring two copies of the mutation in affected dogs. Typical symptoms of the disease encompass excessive or abnormal bleeding following injury or the presence of blood in various bodily secretions (urine, feces, etc.).

• Aussiedoodle
• Australian Labradoodle
• Barbet
• Bernese Mountain Dog
• Cockapoo
• Coton de Tulear
• Doberman Pinscher
• Drentschse Patrijschond
• German Pinscher
• German Shepherd Dog
• Goldendoodle
• Kerry Blue Terrier
• Labradoodle
• Manchester Terrier
• Miniature Poodle
• Papillion
• Pembroke Welsh Corgi
• Poodle
• Stabyhoun
• Toy Poodle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop von Willebrand’s Disease Type I disease nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop von Willebrand’s Disease Type I disease but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop problems with blood clotting.

Pyruvate Kinase Deficiency (PKD) is a disorder that affects red blood cells due to a mutation in an important enzyme needed for metabolism. This defect leads to red blood cell death that results in severe hemolytic anemia. Symptoms of PKD are typically exhibited between four to twelve months of age and can include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums and stunted growth. With further progression, bones and the liver can be affected ultimately leading to death. Dogs with PKD commonly die before the age of 4 years but longevity can vary based on the breed of dog with some breeds able to survive longer than others. While there is currently no cure for PKD, it is possible for affected dogs to have a reasonable quality of life with the proper care. Carrier dogs do not typically show symptoms of the disease and it may be difficult to detect clinical signs of the condition in inactive affected dogs so it is useful to test for the presence of the mutation before breeding. PKD was originally documented in Basenjis and has since been reported in other breeds, including Dachshunds, Labrador Retrievers, Pugs, Beagles, Cairn Terrier and West Highland White Terriers. There are a number of mutations leading to PKD and are different based on breed. When choosing a test, please select the mutation appropriate for your breed.

• Pug

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PKD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will typically not develop symptoms of PKD and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with PKD which results in hemolytic anemia.

Pyruvate Kinase Deficiency (PKD) is a disorder that affects red blood cells due to a mutation in an important enzyme needed for metabolism. This defect leads to red blood cell death that results in severe hemolytic anemia. Symptoms of PKD are typically exhibited between four to twelve months of age and can include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums and stunted growth. With further progression, bones and the liver can be affected ultimately leading to death. Dogs with PKD commonly die before the age of 4 years but longevity can vary based on the breed of dog with some breeds able to survive longer than others. While there is currently no cure for PKD, it is possible for affected dogs to have a reasonable quality of life with the proper care. Carrier dogs do not typically show symptoms of the disease and it may be difficult to detect clinical signs of the condition in inactive affected dogs so it is useful to test for the presence of the mutation before breeding. PKD was originally documented in Basenjis and has since been reported in other breeds, including Dachshunds, Labrador Retrievers, Pugs, Beagles, Cairn Terrier and West Highland White Terriers. There are a number of mutations leading to PKD and are different based on breed. When choosing a test, please select the mutation appropriate for your breed.

• Labrador Retriever

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PKD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will typically not develop symptoms of PKD and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with PKD which results in hemolytic anemia.

Pyruvate Kinase Deficiency (PKD) is a disorder that affects red blood cells due to a mutation in an important enzyme needed for metabolism. This defect leads to red blood cell death that results in severe hemolytic anemia. Symptoms of PKD are typically exhibited between four to twelve months of age and can include weakness, lack of energy, rapid heart rate, heart murmurs, pale gums and stunted growth. With further progression, bones and the liver can be affected ultimately leading to death. Dogs with PKD commonly die before the age of 4 years but longevity can vary based on the breed of dog with some breeds able to survive longer than others. While there is currently no cure for PKD, it is possible for affected dogs to have a reasonable quality of life with the proper care. Carrier dogs do not typically show symptoms of the disease and it may be difficult to detect clinical signs of the condition in inactive affected dogs so it is useful to test for the presence of the mutation before breeding. PKD was originally documented in Basenjis and has since been reported in other breeds, including Dachshunds, Labrador Retrievers, Pugs, Beagles, Cairn Terrier and West Highland White Terriers. There are a number of mutations leading to PKD and are different based on breed. When choosing a test, please select the mutation appropriate for your breed.

• Beagle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PKD nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will typically not develop symptoms of PKD and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with PKD which results in hemolytic anemia.

Benign Familial Juvenile Epilepsy (BFJE) is an inherited neurological disease that occurs in Lagotto Romagnolo dogs due to a mutation in the LGI2 gene. Symptoms of BFJE typically occur early in pups between five to nine weeks of age and are characterized by seizures that usually resolve by approximately four months of age but some adult cases of BFJE have been observed within the breed. Severely affected dogs may develop ataxia in addition to seizures. With disease resolution, the prognosis for affected dogs is typically good.

• Lagotto Romagnolo

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop BFJE nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop BFJE and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with BFJE which results in seizures and potential ataxia.

Dominant PRA is an eye disorder that affects English Mastiffs and Bull Mastiffs. It is a form of progressive retinal atrophy (PRA) that causes cells of the eye to deteriorate over time eventually leading to complete blindness. Typically, affected dogs show symptoms of the disease starting at approximately 2-3 years of age however, symptoms including night-blindness have been observed in puppies as young as 6 weeks. Progression of the disease is fairly quick with most affected dogs suffering complete blindness within 1-2 years from the onset of symptoms. This particular type of PRA seen in the Mastiff breeds is a dominant condition which means a dog only need inherit one copy of the mutation to be affected by the disease.

• English Mastiff
• Bullmastiff

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PRA-D nor pass this mutation to their offspring.

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will develop PRA-D and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with PRA-D which results in visual deterioration and eventual blindness.

The mutation causes the dog’s infection-fighting white blood cells to be “trapped” and not released from the bone marrow. Without sufficient white blood cells in the bloodstream, the dog’s immune system is unable to fight off infections and the dog eventually dies, usually when they are a few months old. An affected puppy may not show any specific symptoms, other than susceptibility to infection, but may be smaller and less healthy than unaffected puppies. Occasionally, a dog will not show symptoms until they are older, around 7 months old. There is currently no treatment for TNS. However, the infections can be treated with antibiotics or steroids to prolong the life of the dog. It is estimated that about 10% of Border Collies are carriers of the mutation, so testing for TNS before breeding is advisable.

• Border Collie

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop Trapped Neutrophil Syndrome (TNS) nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Trapped Neutrophil Syndrome (TNS) due to this particular mutation and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with Trapped Neutrophil Syndrome (TNS) which results in insufficient release of white blood cells, subsequent reduction in immune function and inability to fight infection.

Degenerative Myelopathy (DM) is a progressive disease of the spinal cord in older dogs. In many breeds, the disease is strongly correlated with a mutation in the superoxide dismutase 1 (SOD1) gene often referred to as the 118G>A mutation. This mutation is tested for using the standard DM test (see above). More recently, a second mutation in the SOD1 gene has been detected in the Bernese Mountain Dog (BMD) and is referred to as the SOD1B 52A>T mutation. To date, a single BMD with two copies of the 52A>T mutation and no copies of the 118G>A mutation has been clinically diagnosed with DM. In one additional study, a single BMD that tested ‘CARRIER’ for both the 118G>A and the 52A>T showed clinical signs of DM highlighting the potential for complex mutation interactions.

The SOD1B mutation is detected much less frequently (3%) than the 118G>A mutation (38%) in BMD but could play a role in disease progression. In an effort to further understand the disease in the breed, the SOD1B test is being offered. Please share the results in an open database such as The Berner-Garde Foundation (http://www.bernergarde.org/home/), a group established to collect, maintain and disseminate information about genetic diseases observed in the BMD. Through tracking of the health and SOD1B status, a better understanding of the impact of this mutation on the breed can be determined.

• Bernese Mountain Dog

A (CLEAR/NORMAL): These dogs have two normal copies of DNA. To date, no dogs tested as ‘CLEAR/NORMAL’ have been confirmed to have DM.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the 52A>T mutation and one normal copy of DNA. One compound carrier (118G>A carrier, 52A>T) to date has been confirmed to have DM.

C (AT RISK/AFFECTED): These dogs have two copies of the 52A>T mutation and may develop DM during their lifetime. At this point, the SOD1B mutation can be interpreted as being ‘AT RISK’ of developing DM within the animal’s lifetime. For dogs showing clinical signs with a presumptive diagnosis of DM, ‘AT RISK/AFFECTED’ test results can be used as an additional tool to aid in the diagnosis of DM.

The lens of the eye normally lies immediately behind the iris and the pupil, and is suspended in place by a series of fibers. It functions to focus light rays on the retina, in the back of the eye. When partial or complete breakdown of these fibers occur, the lens may become partially or fully dislocated from its normal position. Lens luxation can occur for several different reasons. Primary lens luxation is a heritable disease in many breeds and spontaneous luxation of the lens occurs in early adulthood (most commonly 3-6 years of age) and often affects both eyes, although not necessarily at the same time. Lens luxation can lead to inflammation and glaucoma that can result in painful, teary, red eyes that may look hazy or cloudy. If detected early, surgical removal of the lens can be beneficial. Medical treatment of inflammation and glaucoma in the form of topical and oral medications can relieve much of the discomfort associated with this disease. It is important to note that the genetic cause of PLL (POAG-PLL) in Shar-Peis is due to a alternative mutation in the same gene and requires a different test.

• American Eskimo Dog
• American Hairless (Rat) Terrier
• Australian Cattle Dog
• Biewer Terrier
• Chinese Crested
• Chinese Foo Dog
• Jack Russell Terrier
• Jagdterrier
• Lakeland Terrier
• Lancashire Heeler
• Lucas Terrier
• Miniature Bull Terrier
• Norfolk Terrier
• Norwich Terrier
• Parson Russell Terrier
• Pug
• Rat Terrier
• Jack Russell Terrier
• Sealyham Terrier
• Tenterfield Terrier
• Tibetan Terrier
• Toy Fox Terrier
• Volpino Italiano
• Welsh Terrier
• Yorkshire Terrier
• Hybrid/Mix-Breed

A (CLEAR/NORMAL): These dogs have two normal copies of DNA. Research has demonstrated clear dogs will not develop PLL as a result of the mutation, although it is possible they might develop PLL due to other causes, such as trauma or the effects of other, unidentified mutations.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the mutation and one normal copy of DNA. Research has demonstrated that carriers have a very low risk of developing PLL. The majority of carriers do not develop PLL during their lives but a small percentage do. Current estimates are that between 2% – 20% of carriers will develop the condition.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation and will almost certainly develop PLL during their lifetime. It is advised that all genetically affected dogs have their eyes examined by a veterinary ophthalmologist every 6 months, from the age of 18 months, so the clinical signs of PLL are detected as early as possible.

Primary Hyperoxaluria (PH) is a metabolic disorder that affects the Coton de Tulear dog breed. The disease results from a liver enzyme deficiency required to break down calcium oxalate crystals so they can be eliminated from a dog’s system. Without a properly functioning enzyme, crystals build up in the dog’s body leading to progressive illness. Affected puppies show signs of the disorder at 3-4 weeks of age with the disease eventually leading to kidney failure. Symptoms of acute renal failure can include loss of appetite, vomiting, lethargy, decreased urine production, abdominal pain and blood in the urine. PH affected puppies rarely survive beyond a few months. This test includes PH1.

• Coton de Tulear

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PH nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PH but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in eventual kidney failure and poor survival beyond a few weeks of age.

Canine Phosphofructokinase Deficiency (PFK) is a genetic disease which prevents the metabolism of glucose into available energy resulting in exercise intolerance and muscle disease in Cocker Spaniels. PFK deficiency also destroys red blood cells in affected dogs, leading to anemia. The PFK deficiency gene frequency in Cockers is estimated to be 2-10% of the population.

• American Cocker Spaniel
• Cocker Spaniel
• English Cocker Spaniel
• English Springer Spaniel
• Whippet

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop PFK disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop PFK disorder but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop exercise intolerance and muscle disease.

Cystinuria in the Newfoundland dog is indicated by the presence of cystine stones in the kidney, bladder or ureter. Failure by the kidneys to reabsorb amino acids results in the formation of these stones. In this disorder, the kidneys do not adequately reabsorb certain amino acids during the filtering process, thus resulting in excess excretion of these amino acids. The amino acids may precipitate and form crystals or stones in the kidneys, ureters, or bladder.

• Newfoundland

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop cystine stone disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop cystine stone disorder but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop bladder/kidney stones.

Neonatal encephalopathy (NE) or Neonatal encephalopathy with seizures (NEwS) is a recessive developmental brain disease. Affected pups exhibit extreme weakness, and those that survive the first week generally develop progressively worse ataxia, or inability to move properly. This is often accompanied by severe seizures. None have survived to 7 weeks of age.

• Aussiedoodle
• Australian Labradoodle
• Goldendoodle
• Labradoodle
• Miniature Poodle
• Standard Poodle
• Toy Poodle

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop NE nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop NE but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and which results in ataxia and poor survival beyond 7 weeks of age.

The MDR1 gene, or multi-drug resistance gene, codes for a protein that is responsible for protecting the brain by transporting potentially harmful chemicals away from the brain. In certain breeds, a mutation occurs in the MDR1 gene that causes sensitivity to Ivermectin, Loperamide, and a number of other drugs. Dogs with this mutation have a defect in the P-glycoprotein that is normally responsible for transporting certain drugs out of the brain. The defective protein inhibits the dog’s ability to remove certain drugs from the brain, leading to a buildup of these toxins. As a result of accumulation of toxins, the dog can show neurological symptoms, such as seizures, ataxia, or even death. Dogs that are homozygous for the MDR1 gene, meaning that they have two copies of the mutation, will display a sensitivity to Ivermectin, and other similar drugs. Dogs that are heterozygous, meaning they have only one copy of the mutation, can still react to these drugs at higher doses.

The following is a partial list of drugs known to have a negative effect on dogs with the MDR1 mutation:

Acepromzazine, Aldosterone, Amitriptyline, Antiemetics, Apomorphine, Buprenorphine, Butorphanol, Chinidin, Cimeditine, Cortisol, Cysolporin A, Dexamethasone, Digoxin, Diltiazem, Domperidone, Doxorubicin, Doxycycline, Ebastine, Erythromycin, Estradiol, Etoposide, Fentanyl, Fexofenadine, Grepafloxacin, Hydrocortisone, Ivermectin, Itraconazole, Ketoconazole, Loperamide, Losartan, Methylprednisolone, Metoclopramide, Metronidazole, Milbemycin, Mitoxantrone, Morhpine, Moxidectin, Ondansetron, Paclitaxel, Phenothiazines, Phenytoin, Quinidine, Ranitidine, Rifampin, Rifamycin,  Selamectin, Sparfloxacin, Tacrolimus, Tetracycline, Verapamil, Vinblastine, Vincristine.

Additional drugs beyond this list could have a negative effect on dogs with the MDR1 mutation and it is recommended to consult a licensed veterinarian for more information.

• Aussiedoodle
• Australian Shepherd
• Border Collie
• Collie
• English Shepherd
• German Shepherd Dog
• Long-haired Whippet
• McNab
• Old English Sheepdog
• Shetland Sheepdog
• Silken Windhound

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop MDR1 nor pass this mutation to their offspring.

B (CARRIER/AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They can react to certain drugs at higher doses and pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and which results in sensitivity to a number of drugs including but not limited to Ivermectin, Loperamide, Doxorubicin, Cyclosporin, Digoxin, Acepromazine, Butorphanol and others.

Centronuclear myopathy in Labrador Retrievers is a recessively-inherited muscular disease. This disease was previously known as Labrador muscular myopathy. The disease is characterized by early onset muscular problems such as awkward gait, fatigue, and difficulty eating. Puppies are born apparently normal; however, it quickly becomes evident that there is problem. The puppy will often not gain weight adequately, due to decreased muscle tone in the esophagus. Within 2 to 5 months, the disease has usually progressed to display the full range of symptoms. This condition is exacerbated in cold conditions. Unfortunately, there is no cure for CNM, as the dog will never develop properly functioning muscle tissue. The dog usually has a normal life span, however, he will always be plagued with the symptoms.

• Labrador Retriever

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CNM nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CNM but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop insufficient muscle function.

This disease is characterized by the excretion of uric acid leading to the formation of urinary calculi (stones) which may then require surgery. If a dog from a breed susceptible to this disorder is seen to experience problems urinating freely, then veterinary advice should be sought immediately.

• Alapaha Blue Blood Bulldog
• American Staffordshire Terrier
• Aussiedoodle
• Australian Shepherd
• Biewer Terrier
• Black Russian Terrier
• Bulldog
• Coton De Tulear
• Dalmatian
• German Shepherd Dog
• German Shorthaired Pointer
• German Longhaired Pointer
• Giant Schnauzer
• Hungarian Wirehaired Vizsla
• Jack Russell/Parsons Terrier
• Large Munsterlander
• Mastiff
• Pitbull
• South African Boerboel
• Vizsla
• Weimaraner

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop urate stone disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop urate stone disorder but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop bladder/kidney stones.

Cataracts are a clouding of lens of the eye caused by a breakdown of tissue in the eye. This generally results in an inability to see clearly, and can cause total blindness. In canines, mutations that result in cataracts can be passed to offspring and is known as Hereditary Cataracts (HC), Juvenile Cataracts (JC) or Early Onset cataracts (EOC). A mutation in the HSF4 gene causes this type of cataracts in several breeds of dogs. In this case, the dog is typically affected bilaterally with both eyes affected by the disease. The cataracts associated with HSF4 also occur in the posterior region of the lens. They usually begin small and grow progressively, though the speed of growth is highly variable. Some cataracts will grow so slowly that the dog’s vision remains relatively clear, while others will grow such that the dog will quickly go blind. Corrective surgery is possible, though it is costly and is not always effective. One HSF4 mutation causes the recessive form of HC in Boston Terriers, Staffordshire Bull Terriers, and French Bulldogs. Because it is recessive, a dog must have two copies of this mutation to experience this form of cataracts. This mutation is only responsible for early-onset HC, which typically occur between 12 months and 3 years of age in Staffordshire’s, and between 2-3 years in Boston Terriers. Boston Terriers can also be afflicted by late-onset HC; however, the HSF4 gene mutation is not responsible for that particular form of cataracts. A separate mutation of the HSF4 gene is responsible for HC in Australian Shepherds. This mutation affects Aussies differently, in that the disease is dominant, but not completely penetrant. This means that only one copy of the mutation is necessary to predispose a dog to the disease, however, incomplete penetrance means that a dog that has this mutation will not always develop HC. Research suggests that the mutation makes a dog 12 times more likely to develop posterior bilateral cataracts at some point in their lifetime. It is likely that a secondary gene interaction occurs in the small percentage of dogs possessing the HC mutation but do not develop cataracts, however, this interaction is not yet know. It is important to note that not all cataracts are hereditary. Cataracts can also be caused by old age or injury. Also, cataracts that occur in different regions of the lens can also be familial, but not necessarily attributed to this gene mutation.

• Aussiedoodle
• Australian Shepherd
• Boston Terrier
• French Bulldog
• Staffordshire Bull Terrier

Terrier and Bulldog:

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop HSF4-Hereditary Cataracts nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop HC but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs carry two copies of the mutant gene and are homozygous for HC. The dog is affected by HSF4-Hereditary Cataracts, and will always pass on a copy of the mutated gene to its offspring.

Australian Shepherd:

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop HSF4-Hereditary Cataracts nor pass this mutation to their offspring.

B (CARRIER/AT RISK): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will likely develop HC and will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs carry two copies of the mutant gene and are homozygous for HC. These dogs will very likely be affected by HSF4-Hereditary Cataracts, and will always pass on a copy of the mutated gene to its offspring.

Exercise Induced Collapse (EIC) is a canine genetic disorder that leads to loss of muscle control following periods of extreme exercise. Episodes generally occur after 5-25 minutes of excessive activity that can include actively running for extended periods of time. Episode severity ranges between different dogs and often begins with a form of rocking followed by weakening of the hind limbs and eventual collapse. Attacks are typically brief (less than 20 minutes) and dogs tend to recover. In a limited number of cases, episodes can be fatal. Affected dogs begin to show symptoms from a couple of months to 3 years of age and are more susceptible at an age when more intensive training begins. It is important for owners of dogs affected with EIC to be familiar with activities that may trigger an episode.

• Boykin Spaniel
• Bouvier des Flanders
• Chesapeake Bay Retriever
• Cocker Spaniels
• Curly-Coated Retriever
• German Wirehaired Pointer
• Labrador Retriever
• Old English Sheepdogs
• Pembroke Welsh Corgi

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop Exercise Induced Collapse nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Exercise Induced Collapse but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to collapse following periods of extreme exercise.

This disorder, also known as ‘gray collie syndrome,’ is characterized by a reduced number of neutrophils which drops dramatically in a cyclical pattern, usually about every 10 to 12 days. During the time of a low neutrophil count, there is an increased susceptibility to infection. Affected dogs develop clinical signs such as fever, diarrhea, joint pain, or other signs associated with eye, respiratory, or skin infections. They are also prone to bleeding episodes. This is a serious genetic disorder in which affected puppies are smaller and weaker, with a noticeable pale gray or pinkish/gray or beige color. These puppies rarely live beyond a couple of days and when they do survive, they are susceptible to a number of infections. With proper treatment they can be kept alive, but few have lived beyond 2 to 3 years of age.

• Border Collie
• Collie
• Rough Collie
• Smooth Collie

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CN nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CN but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and which results in a reduced white cell count and increased susceptibility to infection.

The canine multifocal retinopathy mutation causes raised lesions to form on the retina which alters the appearance of the eye but usually does not affect sight. The lesions may disappear, or may result in minor retinal folding. Symptoms of the mutation usually appear when a puppy is only a few months old, and generally do not worsen over time. The genetic test for CMR is valuable for identifying the cause of a retinal deformation. Given the exact genetic diagnosis, the owner can be reassured that there probably will be little or no vision loss due to this condition.

While both CMR1 and CMR2 mutations are in the same gene, they are breed specific and testing for only one is required. The CMR2 mutation is specific for the Coton de Tulear breed. All other breeds listed should test for the CMR1 mutation.

• Coton de Tulear

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CMR disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CMR disorder but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop retinal deformation.

The canine multifocal retinopathy mutation causes raised lesions to form on the retina which alters the appearance of the eye but usually does not affect sight. The lesions may disappear or may result in minor retinal folding. Symptoms of the mutation usually appear when a puppy is only a few months old, and generally do not worsen over time. The genetic test for CMR is valuable for identifying the cause of retinal deformation. Given the exact genetic diagnosis, the owner can be reassured that there probably will be little or no vision loss due to this condition.

While both CMR1 and CMR2 mutations are in the same gene, they are breed specific and testing for only one is required. The CMR2 mutation is specific for the Coton de Tulear breed. All other breeds listed should test for the CMR1 mutation.

• Alapaha Blue Blood Bulldog
• American Bulldog
• Aussiedoodle
• Australian Shepherd
• Bullmastiff
• Cane Corso (AKA Italian Mastiff)
• Dogue de Bordeaux
• English Bulldog
• English Mastiff
• Great Pyrenees
• Perro de Presa Canario

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop CMR disorder nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop CMR disorder but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop retinal deformation.

Factor VII is a clotting factor synthesized in the liver that is necessary to initiate blood coagulation when vascular injury occurs. The condition is not fatal but can cause increased bleeding after surgery or injury in affected dogs. In rare circumstances, an affected dog may experience excessive bleeding and require a blood transfusion.

• Airedale
• Alaskan Klee Kai
• Beagle
• Giant Schnauzer
• Papillon
• Scottish Deerhound

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop factor VII deficiency nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop factor VII deficiency but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease and are susceptible to develop problems with blood clotting.

Degenerative Myelopathy (DM) is a progressive disease of the spinal cord in older dogs. The disease has an insidious onset typically between 8 and 14 years of age. It begins with a loss of coordination (ataxia) in the hind limbs. The affected dog will wobble when walking, knuckle over or drag the feet. This can first occur in one hind limb and then affect the other. As the disease progresses, the limbs become weak and the dog begins to buckle and has difficulty standing. The weakness gets progressively worse until the dog is unable to walk. The clinical course can range from 6 months to 1 year before dogs become paraplegic. If signs progress for a longer period of time, loss of urinary and fecal continence may occur and eventually weakness will develop in the front limbs. Another key feature of DM is that it is not a painful disease. Although any dog can be tested for DM, it is possible that the genetic background that predominates in some breeds prevents the development of symptoms even in dogs testing affected (at risk). At this time the required evidence of association between the genetic mutation and actual spinal cord evaluations has only been proven in the breeds listed.

• Airedale Terrier
• Alapaha Blue Blood Bulldog
• American Eskimo Dogs
• Aussiedoodle
• Australian Shepherds
• Bernese Mountain Dog
• Biewer Terrier
• Borzoi
• Boxers
• Cardigan Welsh Corgi
• Chesapeake Bay Retrievers
• Coton De Tulear
• German Shepherd Dog
• Golden Retriever
• Great Pyrenees
• Irish Setters
• Kerry Blue Terriers
• Pembroke Welsh Corgis
• Poodle
• Pug
• Rhodesian Ridgeback
• Shetland Sheepdog
• Shih Tzu
• Soft-Coated Wheaten Terriers
• Wire Fox Terrier

A (CLEAR/NORMAL): These dogs have two normal copies of DNA. Among the hundreds of dogs studied to date at the University of Missouri, only two dogs with test results of ‘CLEAR/NORMAL’ have been confirmed to have DM.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the mutation and one normal copy of DNA. Carriers are far less likely to develop DM however; a few cases to date of DM have been confirmed in a small number of carrier dogs.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation and will likely develop DM during their lifetime. Although many dogs tested to date typed as ‘AT RISK/AFFECTED’ have been clinically confirmed DM, recent evidence suggest that there are other causes of DM in some breeds. In addition, not all dogs testing as ‘AT RISK/AFFECTED’ have shown clinical signs of DM. Research is ongoing to estimate what percentage of dogs testing as ‘AT RISK/AFFECTED’ will develop DM within their lifespan. At this point, the DM mutation can be interpreted as being ‘AT RISK’ of developing DM within the animal’s lifetime. For dogs showing clinical signs with a presumptive diagnosis of DM, ‘AT RISK/AFFECTED test results can be used as an additional tool to aid in the diagnosis of DM.

Bandera’s Neonatal Ataxia (also referred to as Bandera’s Syndrome) is a hereditary disease found only in the Coton de Tulear dog. This hereditary disease is named for the second Coton puppy diagnosed with the disease and results in affected puppies with an inability to coordinate their movements. This is due to a mutation in a glutamate receptor gene that affects neurotransmitter levels leading to improper brain signals and impeded movement coordination. Affected puppies can be recognized within the first few weeks as displaying difficulties walking, eating, standing and eliminating. There have been no known adult Cotons affected with Bandera’s Neonatal Ataxia.

• Coton de Tulear

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop BNAT nor pass this mutation to their offspring.

B (CARRIER/NOT AFFECTED): These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop BNAT but will, if bred, pass the mutation to 50% of its offspring, on average.

C (AT RISK/AFFECTED): These dogs have two copies of the mutation associated with this disease which results in ataxia and poor survival beyond a few weeks of age.