Disease Tests

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.

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.

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.

Please see http://www.offa.org/dnatesting/dmexplanation.html and http://www.caninegeneticdiseases.net/DM/ancmntDM.htm for additional information on DM diagnosis.

Airedale
American Bulldogs
American Eskimo Dog
American Hairless (Rat) Terrier
American Staffordshire Terrier
Australian Cattle Dog
Australian Shepherd
Beagle
Bernese Mountain Dog
Border Collie
Borzoi
Boston Terrier
Boxers
Boykin Spaniel
Bulldog
Bullmastiffs
Cardigan Welsh Corgi
Chesapeake Bay Retriever
Chinese Crested
Cocker Spaniel
Collie
Coton De Tulear
Dalmatian
Doberman Pinscher
English Cocker Spaniel
English Shepherd
English Springer Spaniel
French Bulldog
German Pinscher
German Shepherd
German Wirehaired Pointer
Giant Schnauzer
Golden Retriever
Goldendoodle
Great Pyrenees
Irish Setters
Jack Russell Terrier
Jack Russell/Parsons Terrier
Kerry Blue Terrier
Labradoodle
Labrador Retriever
Lancashire Heeler
Lucas Terrier
Newfoundland
Norfolk Terrier
Norwich Terrier
Old English Sheepdog
Parson Russell Terrier
Pembroke Welsh Corgi
Pitbull
Poodle
Pug
Rat Terrier
Rhodesian Ridgeback
Russell Terrier
Sealyham Terrier
Shetland Sheepdog
Silken Windhound
Soft Coated Wheaten Terriers
Stabyhound
Staffordshire Bull Terrier
Standard Poodle
Tenterfield Terrier
Tibetan Terrier
Toy Fox Terrier
Welsh Terrier
Whippet
Wire Fox Terrier
Yorkshire 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.

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 (READ PDF HERE) . In one additional study, a single BMD that tested ‘CARRIER’ for both the 118G>A and the 52A>T showed clinical signs of DM (READ PDF HERE) 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.

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
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.

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.

American Bulldogs
Australian Shepherd
Bulldog
Bullmastiffs
Cane Corsos
Coton de Tulear
Dogue de Bordeaux
English Bulldogs
English Mastiffs
French Bulldog
Great Pyrenees
Perro de Presa Canario
South African Boerboel

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.

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.

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.

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.

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.

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.

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 Staffordshires, 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.

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 carries 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 carries two copies of the mutant gene and are homozygous for HC. The dog will very likely be affected by HSF4-Hereditary Cataracts, and will always pass on a copy of the mutated gene to its offspring.

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.

American Staffordshire Terrier
Australian Shepherd
Black Russian Terrier
Bulldog
Dalmatian
German Shepherd Dog
Giant Schnauzer
Jack Russell/Parsons Terrier
Large Munsterlander
Pitbull
South African Boerboel
Weimaraner
All breeds

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.

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.

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.

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 similiar drugs. Dogs that are heterozygous, meaning they have only one copy of the mutation, can still react to these drugs at higher doses.

Australian Shepherd
Border Collie
Collie
English Shepherd
German Shepherd
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.

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.

Goldendoodle
Labradoodle
Standard 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.

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.

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.

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.

American Eskimo Dog
American Hairless (Rat) Terrier
Australian Cattle Dog
Chinese Crested
Chinese Foo Dog
Jack Russell Terrier
Jagd Terrier
Lakeland Terrier
Lancashire Heeler
Lucas Terrier
Miniature Bull Terrier
Norfolk Terrier
Norwich Terrier
Parson Russell Terrier
Rat Terrier
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.

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 Eskimo Dog
Aussiedoodle
Australian Cattle Dog
Australian Labradoodle
Australian Shepherd
Australian Stumpy Tail Cattle Dog
Boykin Spaniel
Chesapeake Bay Retriever
Chihuahua
Chinese Crested
Cockapoo
Cocker Spaniel
English Cocker Spaniel
English Shepherd
Entlebucher Mountain Dog
Finnish Lapphund
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.

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 Collies

A (CLEAR/NORMAL): These dogs have two copies of the normal gene and will neither develop 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 TNS 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 complications due to infections. as a result of a reduced immune response.

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.

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.

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 (PKD-BEA)
Labrador Retriever (PKD-LAB)
Pug (PKD-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.

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 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.).

Bernese Mountain Dog
Coton de Tulear
Doberman Pinscher
Drentsche Patrijshond
German Pinscher
Goldendoodle
Kerry Blue Terrier
Labradoodle
Manchester Terrier
Papillon
Pembroke Welsh Corgi
Poodle
Stabyhoun

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.