Overview
A number of tests are available for the Labradoodle. Two or more of these tests purchased as part of this bundle will be discounted.
- Chondrodysplasia (CDPA) associated with the FGF4 -18 retrogene insertion
- Chondrodystrophy (CDDY) with risk of IVDD associated with the FGF4-12 retrogene insertion.
- Day Blindness/Retinal Degeneration associated with the Gene gene
- Degenerative Myelopathy associated with the SOD1 gene
- Exercise Induced Collapse associated with the DNM1 gene
- Hyperuricosuria associated with the SLC2A9 gene
- Multi-Drug Resistance associated with the ABCB1 gene
- Macular Corneal Dystrophy associated with the CHST6 gene
- Obesity and food motivation associated with the POMC gene
- Progressive Retinal Atrophy (PRA1) associated with the SLC4A3 gene
- Progressive Retinal Atrophy (PRA2) associated with the TTC8 gene
- Progressive Retinal Atrophy (PRCD) associated with the PRCD gene
- Progressive Retinal Atrophy (RCD4) associated with the RCD4 gene
- Stargardt associated with the ABCA4 gene
- Von Willebrand Disease Type I associated with the VWD gene
Chondrodysplasia (CDPA)
Chondrodysplasia (CDPA) is shortened long bones, resulting in dogs with short legs.
A partial copy of the FGF4 gene has been inserted (FGF4-18, a retrogene insertion) on chromosome 18 and is associated with CDPA. Evidence that suggests that any dog with one or two copies of FGF4-18 will have short legs. Unlike CDDY, CDPA is not associated with any disease.
Chondrodystrophy (CDDY) with risk of IVDD
Chondrodystrophy (CDDY) in dogs is defined by dysplastic (abnormal), shorted long bones (short legs) and premature degeneration and calcification of intervertebral discs. Chondrodystrophic breeds are prone to a type of disc degeneration called chondroid metaplasia, where the discs become hardened and less able to flex with movement and therefore more prone to bulging or rupture i.e. Intervertebral Disk Disease (IVDD). The calcified inner disc material also puts pressure on the spinal cord, causing pain and damage to the nerves running through the spinal cord. Dogs may suffer from severe pain, inability to urinate or defecate, paralysis and even death. Many affected dogs are treated by surgically removing the prolapsed disc.
A partial copy of the FGF4 gene has been inserted (FGF4-12, a retrogene insertion) on chromosome 12 and is associated with CDDY. Evidence that suggests that any dog with one or two copies of FGF4-12 will be affected with CDDY, will have short legs and will be predisposed to IVDD. However, not all dogs with FGF4-12 will go on to develop IVDD.
Day Blindness/Retinal Degeneration
Day blindness, also known as achromatopsia, is characterised by a failure of cone cells in the retina to function properly. Cone cells are responsible for vision in bright light conditions and thus affected puppies have signs of poor vision in bright light but initially retain normal vision in low light levels.
Affected dogs lose vison in bright light conditions. However, unlike other forms of day blindness in other breeds, the DB/RD mutation eventually leads to a complete retinal degeneration and ultimately causes vision loss under all lighting conditions. Day blindness is present in puppyhood and general retinal degeneration develops around 4-5 years of age.
Degenerative Myelopathy
Important: Degenerative Myelopathy is a rare disease that presents most commonly in German Shepherd Dogs and Boxers, sporadically in Pembroke Welsh Corgis, Cardigan Welsh Corgis, Bernese Mountain Dogs, Rhodesian Ridgebacks, Borzoi and Chesapeake Bay Retrievers. It is rarely diagnosed in other breeds or mixed-breed dogs. DM is considered genetically complex and will have more than one contributing genetic variant. The variant targeted by this test is widespread and found in more than 120 breeds. However, association of the variant with the disease has only been shown in very few breeds and should never be used to inform breeding decisions, except where close relatives have been clinically diagnosed.
Canine degenerative myelopathy (previously also known as chronic degenerative radiculomyelopathy) is a progressive disease of the spinal cord in older dogs. Most dogs are at least 8 years old before clinical become apparent. DM usually starts with a muscle weakness, loss of muscle and loss of coordination (ataxia) in the hind limbs. Progression is generally quote slow, but dogs will eventually be crippled within approximately 3 years of the onset of disease.
Exercise Induced Collapse
Exercise Induced Collapse (EIC) is an inherited condition that primarily affects Labrador Retrievers and their related breeds – mainly Labrador crosses. The variant responsible has also been found in other breeds, including Curly-coated Retrievers, Boykin spaniels and Pembroke Welsh Corgis. The signs of EIC typically become noticeable when dogs undergo rigorous training. The initial symptoms usually manifest between the ages of 5 months and 3 years, although there have been cases where affected dogs didn’t experience collapse episodes until as late as age 10. Dogs with this condition can tolerate mild to moderate exercise, but after engaging in heavy exercise for a duration of 5 to 20 minutes, they experience weakness and collapse. While some dogs may only exhibit collapse episodes sporadically, severely affected dogs can collapse whenever they are exercised to this extent. The condition can be exacerbated by excitement and high temperatures.
Hyperuricosuria
The SLC2A9 gene codes for a protein that allows the kidneys to transport uric acid from the urine. Dogs with mutations in both copies of the SLC2A9 gene are predisposed to have elevated levels of uric acid in the urine, hence the name hyperuricosuria. Dogs with hyperuricosuria most commonly present with symptoms of recurrent urinary tract inflammation, which include frequent urination, blood in the urine, and straining to urinate. They may also have loss of appetite, lethargy, weakness, vomiting and pain. Urinary stones in the bladder can cause urinary tract infections or more seriously, blockage of the Urethra.
Both male and female dogs can be affected, but due to differences in their anatomy obstruction of urine flow is more common in males. Although an x-ray can be used to exclude other types of stones, urate stones cannot typically be seen using x-rays and must be evaluated by ultrasound. Not all dogs with mutations in both copies of the SLC2A9 gene will have symptoms of disease, thought they will have increased uric acid excretion in the urine.
Multi-Drug Resistance
In certain breeds a mutation on the ABCB1 gene, which encodes the MDR1 protein (which stands for Multi Drug Resistance 1) can cause animals that carry the mutation to be particularly sensitive to certain drugs. The variant was first detected in a subpopulation of dogs that were highly sensitive to Ivermectin-induced neurotoxicity. The variant on the ABCB1 gene results in the brain being unable to efficiently pump some drugs out, causing a toxic build-up of these drugs in the brain. Dogs subsequently experience and range of symptoms from vomiting and diarrhea to lethargy, seizures, or coma.
A whole range of drugs are pumped out of the brain by the MDR1 protein pump, including antiparasitics, immunosuppressants, antidiarrheals, chemotherapy, antibiotics, antihistamines and more. More details on the drugs that can be dangerous for dogs can be found here. Your vet should be aware if your dog has one or two copies of the defective ABCB1 gene, as it may affect future treatment options.
This genetic defect is known to occur in up to 75% of some dog breed populations, and is particularly common in Rough Collies, Smooth Collies, Shetland Sheepdogs, Australian Shepherds, Miniature Australian Shepherds, Silken Windhounds and White Swiss Shepherds.
Macular Corneal Dystrophy
Macular Corneal Dystrophy is an inherited and progressive eye disease. Initial clinical signs are cloudy corneas and/or visual impairment, first observed between four and six years of age. In addition, white/grey opacities are also observed. The cloudiness and opacities are caused by an abnormal accumulation of glycosaminoglycans in the cornea.
MCD is progressive; as the density of the corneal haze increases, increased vascularization is observed and vision is increasingly impaired.
Obesity and food motivation
In developed countries the rate of canine obesity ranges between 34% and 59%. Obesity is associated with reduced lifespan and several other comorbidities, as it is in humans. Labrador retrievers have among the highest prevalence of obesity and are particularly food motivated. The POMC gene is known to be important in regulating how the brain recognises hunger and the feeling of being full after a meal. A variant in the pro-opiomelanocortin (POMC) gene has been associated with increased body weight, adiposity (body fat) and food motivation in Labrador and Flat-coat retrievers.
The variant identified is relatively common with an allele frequency of 12% in labrador retrievers. Interestingly a higher frequency of 45% was observed in assistance dog populations.
Progressive retinal atrophy (PRA1 type)
Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
This specific form of PRA is caused by a mutation in a gene called SLC4A3 and is indistinguishable from other forms of PRA in other breeds. The average age of onset of clinical signs is quite late, around 6 years, but can be variable. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in SLC4A3 will prevent further spread of this blinding condition in this lovely breed.
Progressive retinal atrophy (PRA2 type)
This specific form of PRA is caused by a mutation in a gene called TTC8. In humans TTC8 is also known as BBS8 and is associated with Bardet Biedl Syndrome and with non-syndromic Retinitis Pigmentosa. PRA is the primary feature in dogs homozygous with the mutation in TTC8, but they can also present with other characteristic such as obesity, renal anomalies, sperm defects and anosmia. The average age of onset of ophthalmic clinical signs is around 5 years, but can be variable. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in TTC8 will prevent further spread of this blinding condition in this lovely breed.
Progressive retinal atrophy (PRCD type)
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Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs. Genetically different forms of PRA, caused by mutations in different genes, affect many breeds of dog with each form usually affecting one or a small number of breeds. PRA is characterised by progressive degeneration of the retina at the back of the eye and leads to vision loss and blindness.
Progressive Rod Cone Degeneration (PRCD) is a form of PRA and was one of the first PRAs for which a genetic variant was identified. PRCD is different than most forms of PRA in that the variant has been found in a large number and diverse range of breeds.
Progressive retinal atrophy (RCD4 type)
Progressive retinal atrophy (PRA) is the most common form of inherited disease affecting the retina in dogs; the retina detects light and sends images to the brain. Progressive degeneration of the retina at the back of the eye is characteristic of PRA and leads to vision loss and blindness. PRA is not painful to dogs, and the first signs of the disease tend to be bumping in to objects, such as a piece of furniture that has been moved. Mutations in different genes cause genetically different forms of PRA. It affects many different breeds of dog , but each genetically distinct form usually affects one or a small number of breeds.
Progressive retinal atrophy in the Gordon setter is caused by a mutation in a gene called PCARE (previously known as C2ORF71) and is indistinguishable from other forms of PRA in other breeds. It is also found in a number of other breeds. The average age of onset of clinical signs is quite late, around 10 years, but can be anything between 5 and 12 years. In humans, mutations in PCARE are associated with a condition known as Retinitis Pigmentosa, symptoms of which include loss of peripheral vision and the ability to see at night. There is no cure for this form of PRA, but using the DNA test to identify dogs that carry the mutation in PCARE will prevent further spread of this blinding condition in this lovely breed.
Stargardt (ABCA4 type)
Stargart disease is an inherited eye disease that affects dogs, primarily Labrador Retrievers. Onset of significant clinical signs is late in life, with affected dogs presenting with observable visual problems around 10 years of age. As with other retinal degenerations, such as progressive retinal atrophy, Stargardt disease is characterised by the degeneration of the rod and cone photoreceptor cells of the retina. Dog therefore experience visual deficits in bright and low light conditions. It is a progressive disease and symptoms will get worse as the dog ages.
Von Willebrand Disease Type I
Von Willebrand Disease (vWD) is an inherited bleeding disorder caused by lack of von Willebrand factor protein (vWF). This protein circulates in the blood stream and must be present at the site of blood vessel injury in order to control bleeding from that vessel. Clinical signs of vWD ranged from mild to severe bleeding tendency.
There are three forms of vWD (types 1, 2 and 3) that are defined by the quantity and structure of VWF in the blood plasma. Type 1 is characterised by a low concentration of vWF, but it has a normal structure and clinical severity of the disease is variable. These dogs are unlikely to bleed spontaneously but may be prone to excessive bleeding when undergoing surgery or in injured.
