DNA

A Pure designer breed Labradoodle from selective breeding stands the best chance for a healthy life. To enter into our breeding program, Labrador Retriever parents must pass a series of 16 genetic tests and Standard Poodle parents must pass a series of 8 genetic tests, designed to weed out disease and impure bloodline. All Top Notch Labradoodle Parent's DNA are tested for pure breed status and for the most common genetically spread diseases. For Labs: EIC, 3 genetic mutations of PRCD, 2 genetic mutations of RD/OSD, CNM, CYN, HNPK, NARC, DM, and PK, Myotubular Myopathy, HUU, and Elliptocytosis. For Standard Poodles: Degenerative Myelopathy, GM2 Gangliosidosis (Poodle Type), Neonatal Encephalopathy with Seizures, Osteochondrodysplasia, Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration, Von Willebrand Disease I, and Von Willebrand Disease II.

Currently, there are no genetic tests for Hip Dysplasia. To ensure we don't produce a puppy with a genetic predisposition to hip dysplasia, we X-Ray the parents we own at ~18-24+ months of age since "dysplasia almost always shows up by 18 months of age". In addition, many of our parent's pedigrees show track records of normal OFA/CERF test results for hips, elbows, shoulders, joints, and more. 

Why Genetic Testing?

A person purchasing an untested AKC Registered Labrador Retriever has an 87% chance that the dog will not be purebred, it will carry, or be affected with genetic disease. Pure Breed & Overall genetic health probability statistics are currently unknown for Labradoodles. Genetic disease reduces the quality of life for both the owner and the pet and ultimately costs buyers thousands of dollars in avoidable medical expenses. Genetic testing with selective breeding eliminates the spread of genetic disease. Genetic testing is conclusive, reliable, and can identify disease before it's spread. 

Hip, Elbow, Shoulder, & Joint Dysplasia / OFA (Orthopedic foundation for Animals)

OFA estimates that 8% of Labs will X-Ray as dysplastic during their life. Dysplasia is an abnormality in joint structure and is NOT correlated with disability. Veterinarian Doctors report that 60% of hip dysplasia is caused by genetics and 40% by multiple environmental factors such as diet and improper exercise. Cold weather often worsens the symptoms. Because dysplasia is not simply a genetic disease, there are no genetic tests that can be done yet to determine dysplasia. 

OFA is a registry and database for certified canine test results. OFA's primary method to determine dysplasia is through X-Rays (Radiographic Changes). According to OFA's findings, X-Ray changes are not correlated with disability. OFA states: "There is no rhyme or reason to the severity of radiographic changes correlated with the clinical findings. There are a number of dysplastic dogs with severe arthritis that run, jump, and play as if nothing is wrong and some dogs with barely any arthritic radiographic changes that are severely lame." 

"In dogs, the problem almost always appears by the time the dog is 18 months old. The defect can be anywhere from mild to severely crippling, and can eventually cause severe osteoarthritis."

BIT (Breed Indentification Test) - While AKC registration is supposed to represent "Pure Breed", the reality is that it does not. There are accidental breedings and manipulations that have caused the AKC registry process a loss of reliability. Just take a look at how many "AKC Silver Labs" there are! While AKC registration is a great start to finding a pure breed dog, the only way to know if a dog is pure breed is through Breed Indentification Testing. 

Diseases - Labrador Retrievers and/or mixes of:

EIC(Exercise Induce Collapse) 

More than 45% of Labs are affected with or carry EIC. This disease is a common inherited disease in young adult Labrador Retrievers. Affected dogs typically become weak in the hind limbs and collapse after 5-20 minutes of high intensity exercise, such as in field trials or upland game hunting, and in some cases simple fetch and retrieves. Heart rates remain very elevated with heavy panting. In rare cases, some Labs die during collapse. 

PRCD Optigen, 1 & 4 (Progressive Rod-Cone Degeneration) / PRA (Progressive Retinal Atrophy) / CERF(Canine Eye Registration Foundation) / Eye Examinations

23% of Labs carry PRCD. PRCD is the form of PRA that is common among Labrador Retrievers. PRCD causes night blindness by 4 - 6 years old, and total blindness at 6 - 8 years old. It is inherited as an autosomal recessive trait and has been linked to the ninth canine chromosome. Genetic Testing is administered for this avoidable disease.

CERF is a registry and database that tracks eye exam results in all canine breeds. Some breeders choose eye examinations over Genetic Testing. However, CERF eye examinations DO NOT avoid the spread of genetic disease. Breeders choose eye examinations to advertise "health clearances". Cerf exams are good for 12 months only and do not clear for genotype. A canine could pass an eye exam, produce diseased offspring, then later fail eye exams after the symptoms of genetic disorder are apparent, thus spreading this avoidable genetic disease. Also, a canine could be a carrier of this genetic disease. Carriers will never show symptoms. When a carrier is bred to another carrier, they produce an affected litter. 

​RD/OSD 1 & 2 - Retinal Dysplasia / Oculoskeletal dysplasia) aka "Dwarfism" & Eye Disorders

​Only 3% of Labs are estimated to carry RD/OSD. Dogs affected with Oculoskeletal dysplasia have short-limbs and ocular defects including vitreous dysplasia, retinal detachment and cataracts. Heterozygotes have milder ocular disease (retinal folds) but normal skeletal development. Sadly, some breeders market these dogs as "mini" Labrador Retrievers. Genetic Testing is administered for this avoidable disease.

CNM(Centronuclear Myopathy)​​

Carrier and affected statistics have not yet been published. CNM is a recessively inherited muscular disease. Newborn affected puppies are indistinguishable from their littermates. However, as early as 2 weeks old, a progressive and significant weight loss is observed. At one month of age, the absence of tendon reflexes is typically noticed and used as an early and reliable diagnosis. The age of onset of disability varies between 2 to 5 months. An awkward pattern of movement, decreased exercise tolerance, difficulty eating, and a generalized muscle weakness are often noticeable symptoms. The pup will never recover from this disabling disease. Genetic Testing is administered for this avoidable disease.

​CYN(Cystinuria)

Cystinuria is a newer genetic test and it has not been determined specifically what percentage of Labs carry CYN. However, anywhere from 10% - 27% of breed specific males carry or are affected with CYN. Cystinuria is a genetic defect that mainly affects Newfoundland's and Labrador Retrievers. CYN causes the kidney's not able to process cystine, a basic amino acid, correctly. In most cases it takes many years before the problem is noticeable. Over time, the unprocessed cystine clumps together to form stones. These stones can block the urinary tract. This is a life-threatening condition and requires surgery. Genetic Testing is administered for this avoidable disease.

Male dogs have a narrower urethra than females and have the greatest risk. Any suspicions in males should be tested immediately as they are more likely to suffer complete blockage, leading to the rupture of the bladder and/or kidney failure, and eventually death. While the disease is able to be managed with constant treatment and in severe cases repeated surgeries, Cystinuria can lead to ongoing medical issues and can greatly decrease the quality of life for you and your dog.

HNPK(Hereditary Nasal Parakeratosis) 

Approximately 10% of Labs are HNPK carriers. HNPK is an inherited skin disorder observed only in Labrador Retrievers. Symptoms start to appear from 6 months to 1 year in age. It appears as a crusty patch of scales on the nose. Painful fissures may also occur, leading to chronic irritation and inflammation of nasal skin. Although the disease is not life-threatening, it is persistent and requires continuous application of moisturizing agents and antibiotics to the afflicted dog’s nose to alleviate symptoms. Genetic Testing is administered for this avoidable disease.

NARC (Narcolepsy)

Genetic testing for Narcolepsy is new and it has not yet been determined what percentage of dogs carry the NARC gene. Dog with narcolepsy have disrupted sleep-wake cycles causing tiredness, lethargy, abrupt daytime sleep during normal waking hours and temporary muscle paralysis, collapse or unconsciousness. Most affected dogs recover spontaneously and have no detectable ongoing medical abnormalities. However, occasionally some sort of underlying brain disease is found. Narcolepsy is not life-threatening in most cases, nor is it painful. Dogs with this condition don’t even appear to know that they have it, and can typically live a full, normal, high-quality life. Genetic Testing is administered for this avoidable disease.

DM (Canine Degenerative Myelopathy)

Degenerative myelopathy is an inherited neurologic disorder caused by a Mutation of the SOD1 gene known to be carried by Labradorretrievers. This mutation is found in many breeds of dog, though it is not clear for Labrador retrievers whether all dogs carrying two copies of the mutation will develop the disease. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs, such as the Labrador retriever, can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs. The Mutation of the SOD1 gene associated with degenerative myelopathy has been identified in the Labrador retriever. The overall frequency of this disease in the breed and approximate age of disease onset are unreported for Labrador retrievers. However, in a study of 475 Labrador retrievers tested, 4% were carriers of the mutation and 4.8% were at-risk (4 + 4.8 = 8.8% rate).

PK (Pyruvate Kinase Deficiency) 

Pyruvate kinase deficiency (Labrador retriever type) is an inherited metabolic disease affecting Labradorretrievers. Affected dogs have insufficient activity of the pyruvate kinase Enzyme which breaks down glycogen for energy. Deficiency of this enzyme results primarily in easily damaged red blood cells (hemolysis). Affected dogs typically present between 4 months and 2 year of age with pale gums from decreased numbers of red blood cells (Anemia) and lethargy or exercise intolerance. Clinical findings during a veterinary exam include severe anemia, hardening of the bones, and an enlarged spleen and liver. While dogs can live for several years with this disease, they typically die from severe anemia or liver failure by 5 years of age. The Mutation of the PKLR gene associated with pyruvate kinase deficiency (Labrador retriever type) has been identified in Labradorretrievers, although its overall frequency in this breed is unknown.

​​MTM1, XLMTM (X-linked Myotubular Myopathy, Myotubular Myopathy)

Myotubular Myopathy is an inherited muscle disease affecting Labrador Retrievers. Affected puppies are typically normal at birth, but between 7 and 19 weeks of age they present with muscle weakness especially in the hind limbs, decreased muscle mass, a hoarse bark and difficulty eating. Puppies are smaller than littermates, walk with a short, choppy gait and often fall over. The disease rapidly progresses from generalized muscle weakness and frequent episodes of collapse to a complete inability to stand or even raise their heads within 4 weeks of initial presentation. Dogs that are able to stand have an arched back and neck. While the disease is not painful, affected dogs are often euthanized between 3 and 6 months of age due to the rapid and severe progression of the disease. 

The Mutation of the MTM1 gene associated with myotubular Myopathy 1 has been identified in Labrador Retrievers, although its overall frequency in this breed is unknown.

HUU (Urolithiasis, Hyperuricosuri)

Hyperuricosuria is an inherited condition of the urinary system affecting many breeds of dog. 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. Uric acid can form crystals and/or stones (uroliths) in the urinary tract. 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 obstruction of urine flow is more common in males due to differences in anatomy. 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, though they will have increased uric acid excretion in the urine. The Mutation of the SLC2A9 gene associated with hyperuricosuria has been identified in a presumably purebred Labrador Retriever, although the exact frequency in the overall Labrador Retriever population is unknown. A clear association between this mutation and this disease in Labrador Retrievers has not been reported in the medical literature.

Elliptocytosis

Canine elliptocytosis is a rare inherited blood disorder. Normal red blood cells are round in shape but red blood cells in affected dogs appear oval-shaped and can have serrated edges. An affected dog may present with mild Anemia and may be smaller than its litter mates. Severe health complications have not been reported in affected dogs. Labrador Retrievers are included as a breed susceptible to elliptocytosis due to a publication describing the condition in an affected Chow Chow/Labrador Retriever mixed breed dog. The parental history of the affected dog was not available; therefore the breed of the affected parent is unknown. The frequency of the causal Mutation in the general Labrador Retriever population is unknown.

​​​

Diseases - Standard Poodles and/or mixes of:

Degenerative Myelopathy

Standard poodles are known to develop degenerative myelopathy associated with this mutation. The variable presentation between breeds suggests that there are environmental or other genetic factors responsible for modifying disease expression. The average age of onset for dogs with degenerative myelopathy is approximately nine years of age. The disease affects the White Matter tissue of the spinal cord and is considered the canine equivalent to amyotrophic lateral sclerosis (Lou Gehrig’s disease) found in humans. Affected dogs usually present in adulthood with gradual muscle Atrophy and loss of coordination typically beginning in the hind limbs due to degeneration of the nerves. The condition is not typically painful for the dog, but will progress until the dog is no longer able to walk. The gait of dogs affected with degenerative myelopathy can be difficult to distinguish from the gait of dogs with hip dysplasia, arthritis of other joints of the hind limbs, or intervertebral disc disease. Late in the progression of disease, dogs may lose fecal and urinary continence and the forelimbs may be affected. Affected dogs may fully lose the ability to walk 6 months to 2 years after the onset of symptoms. Affected medium to large breed dogs, such as the standard poodles, can be difficult to manage and owners often elect euthanasia when their dog can no longer support weight in the hind limbs.

​

GM2 Gangliosidosis (Poodle Type)

GM2 gangliosidosis (poodle type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme hexosaminidase B, which is responsible for breaking down specific carbohydrates in the cells. As a result, there is an accumulation of a glycoprotein, GM2 ganglioside, in cells, especially cells of the brain and nervous system. Affected dogs typically present with symptoms of neurologic disease around 9 to 12 months of age. Symptoms include vision loss, difficulties walking, loss of balance, head tremors and vomiting. Once an affected dog begins to show signs of the disease, the disease progression is rapid and dogs usually die between the ages of 18 and 23 months.

Neonatal Encephalopathy with Seizures

Neonatal encephalopathy with seizures is an inherited neurologic disease affecting dogs. Affected puppies are smaller than littermates at birth, have difficulty nursing after a few days of life, and often die by 1 week of age. By 3 weeks of age, surviving puppies present with neurologic symptoms including muscle weakness, tremors, inability to walk, wide-based stance and frequent falling. The disease quickly progresses to severe seizures that become non-responsive to treatment. Affected dogs typically die or are euthanized by 7 weeks of age.

Osteochondrodysplasia

Osteochondrodysplasia is an inherited Musculoskeletal disease affecting dogs. Affected dogs typically present at about 3 weeks of age with stunted growth. Puppies often walk differently than unaffected litter mates and stand with their feet turned out and hind legs splayed. Their legs are short and bent with enlarged joints and clubbed feet. They also have flatted rib cages and under bites, which can affect their ability to nurse and breathe. While affected dogs can survive for many years with supportive care, they will develop arthritis and will likely have breathing difficulty due to their deformed rib cages.

Progressive Retinal Atrophy, Progressive Rod-Cone Degeneration

Progressive retinal Atrophy, progressive Rod-cone degeneration (PRA-prcd) is a late onset, inherited eye disease affecting many breeds of dog. PRA-prcd occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Evidence of retinal disease in affected dogs can first be seen on an Electroretinogram around 1.5 years of age for most breeds, but most affected dogs will not show signs of vision loss until 3 to 5 years of age or later. The rod type cells are affected first and affected dogs will initially have vision deficits in dim light (night blindness) and loss of peripheral vision. Over time affected dogs continue to lose night vision and begin to show visual deficits in bright light. Other signs of progressive retinal atrophy involve changes in reflectivity and appearance of a structure behind the retina called the Tapetum that can be observed on a veterinary eye exam. Although there is individual and breed variation in the age of onset and the rate of disease progression, the disease eventually progresses to complete blindness in most dogs. Other inherited disorders of the eye can appear similar to PRA-prcd. Genetic testing may help clarify if a dog is affected with PRA-prcd or another inherited condition of the eye.

Von Willebrand Disease I

Von Willebrand’s disease type I (VWDI) is an inherited bleeding disorder affecting many breeds of dog. Dogs affected with VWDI have less than half of the normal level of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. There is variability in the amount of vWf such that not all dogs with two copies of the Mutation are equally affected. Dogs that have less than 35% of the normal amount of vWf generally have mild to moderate signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost, and experience prolonged bleeding after surgery or trauma. Less often, the bleeding may be severe enough to cause death. Due to the variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Most dogs will have a normal lifespan with this condition despite increased blood clotting times.

​

Von Willebrand Disease II

Von Willebrand disease type II (VWDII) is an inherited bleeding disorder affecting dogs. Dogs affected with VWDII have decreased levels and abnormal function of von Willebrand coagulation factor (vWf), which is an essential protein needed for normal blood clotting. Affected dogs generally have moderate to severe signs of a bleeding disorder. Affected dogs may bruise easily, have frequent nosebleeds, bleed from the mouth when juvenile teeth are lost and experience prolonged bleeding after surgery or trauma. The bleeding may be severe enough to cause death. Due to variable severity of the disorder, affected dogs may not be identified until a surgery is performed or trauma occurs at which time excessive bleeding is noted. Veterinarians performing surgery on known affected dogs should have ready access to blood banked for transfusions. Dogs can have a normal lifespan with this condition although they are susceptible to life-threatening bleeding with an accidental injury or any surgical procedure.