What do the testings done on our dogs actually mean?

To help understand the point of testing on dogs and what they mean when purchasing a puppy and why it is important to look at a dog that has tested parents when looking for a new companion.

~OFA HIP AND ELBOW TESTING~

Hip dysplasia is associated with abnormal joint structure and a laxity of the muscles, connective tissue, and ligaments that would normally support the joint. As joint laxity develops, the articular surfaces of the two bones lose contact with each other.

Elbow dysplasia is characterized by varying degrees of elbow incongruity, bony fragments (bone chips), and ultimately, severe arthritic change.It is an inherited disease which primarily affects intermediate and large breed dogs more than smaller breed dogs.
**********We test our breeding dogs for OFA Hip and Elbow clearances before they are bred to make sure that they are passing and the pairing is as clear as they can possibly be to try to minimize Any chances of having offspring with joint issues. We study the pedigree for previous generations of passing hips and elbows within the bloodline as well. Even though we do everything we can to make sure our pups won't have any issues with these types of conditions, we can't 100% guarantee no problems as any breeder who says that they can are not telling the truth. There are many other factors that can cause joint issues but we do try our best to minimize any problems. Keeping your dog intact until they mature, a proper nutrition, not letting them get overweight or letting them get too much strenuous exercise at a young age are all major factors in the growth and development of your new pup.

~Cardiac Clearances~

This test is where Each dog is to be examined and classified by a veterinarian with expertise in the recognition of canine heart disease, in accordance with procedures outlined in The Basic Cardiac Exam section for the OFA requirements. This will rule out any genetic heart murmurs within the dog.

~Patella Luxation Testing~

The patella, or kneecap, is part of the stifle joint (knee). In patellar luxation, the kneecap luxates, or pops out of place, either in a medial or lateral position.
Bilateral involvement is most common, but unilateral is not uncommon. Animals can be affected by the time they are eight weeks of age. The most notable finding is a knock-knee (genu valgum) stance. The patella is usually reducible, and laxity of the medial collateral ligament may be evident. The medial retinacular tissues of the stifle joint are often thickened, and the foot can be seen to twist laterally as weight is placed on the limb.
We get their knees x-rayed and certified so that we know their knee joints are formed like they should be and they have no slipping in the joint itself to rule out passing any knee disorders to pups.
Below are the genetic clearances that we do to be able to determine the correct breeding pairs to be able to know for sure that certain genetic traits can not be passed onto offspring by the testing of the parents. We can manage their health this way and be able to guarantee that pups have no way of being affected by certain disorders by the parentage testing. As you can see, Labradors have a lot of genetic testing available that has come out over the years and they come out with new ones every year. We try our best to keep up with all of the tests that are available every year.

EIC~ Exercise Induced Collapse~

Exercise-Induced Collapse (EIC) is an autosomal recessive genetic disorder causing affected dogs to suffer from a loss of muscle control following periods of extreme exercise. Typically, an affected dog begins to show symptoms between 5 months and 3 years of age, usually around the age that more intensive training begins.
EIC episodes generally occur after 5-25 minutes of extreme exercise. Not all types of exercise can induce an attack; generally the dog must be actively running and excited for an extended period of time. The attacks often begin with rocking, followed by the hind limbs becoming weak and giving out. The severity of these attacks ranges between different dogs; some will continue to attempt to retrieve, dragging their hind legs along, and other will be totally unable to move, acting disoriented. These attacks usually only last about 5-25 minutes, however, in some extreme cases, dogs have died immediately following an EIC attack.

Dogs with Exercise-Induced Collapse can still lead full lives. However, it is important for dog owners to be familiar with what types of activities a dog can participate in and what types of games may trigger an episode.

Because EIC is a recessive disorder, a dog must have two copies of the mutation in order for the disease to manifest. This means that a dog can have one copy of the mutation and not experience any signs or symptoms of EIC; this dog would be known as a carrier. The carrier can then pass on either the normal gene or the mutated gene to any offspring. If two carriers are bred, a dog could potentially receive the mutated gene from each parent and be affected by EIC.

~Degenerative Myelopathy~ DM

~Degenerative myelopathy 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.

CNM~ Centronuclear Mylopathy~

Previously known as HMLR, or Hereditary Myopathy, is an autosomal recessive mutation that causes insufficient muscle function in the Labrador Retriever breed. This is due to the centralisation of the nuclei in muscle fibers, caused by a missense insertion in the PTPLA gene.
Puppies are born apparently normal; however, it quickly becomes evident that there is a 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, including a loss of muscle tone and control, an awkward gait, and extreme exercise intolerance. This condition is exacerbated in cold conditions.

RD/ OSD~ Retinal Dysplasia/ Oculoskeletal Disease~

Retinal dysplasia/oculoskeletal dysplasia 1 is an inherited Collagen disorder affecting Labrador retrievers. Dwarfism and eye abnormalities may be apparent as early as 4 to 6 weeks of age in affected puppies. The dwarfism is characterized by shortened forelimbs that become curved as the dog grows. In puppies, the top of the head may be noticeably dome shaped compared to littermates. A range of eye abnormalities is visible on a veterinary eye exam of which retinal detachment and cataracts are the most common. Carrier dogs do not have skeletal changes but may have mild eye abnormalities, including retinal folds.

SD2~ Skeletal Dysplasia 2~

An inherited Musculoskeletal disease affecting Labrador Retrievers. Affected dogs develop a mild form of “disproportionate dwarfism” consisting of short legs with normal body length and width. The leg bones are shorter, thicker, and slightly curved and the front legs are frequently more affected than rear legs. Joints and eyes are not typically affected with this disease. The height of affected dogs is variable, making diagnosis based on physical characteristics alone challenging in some individuals. Mildly affected dogs from bloodlines known to produce large dogs may still fall within their breed standard for height. The causal Mutation shows Incomplete Penetrance meaning that not all dogs inheriting two copies (one from each parent) will display obvious physical characteristics of dwarfism.

Cys~ Cystinuria~

(Labrador retriever type) is an inherited disease affecting kidney function in Labrador retrievers. The SLC3A1 gene codes for a protein that allows the kidneys to transport cystine and other amino acids from the urine. Normal kidneys reabsorb the Amino Acid cystine so that only small amounts pass into the urine, while dogs with mutations of both copies of the SLC3A1 gene fail to reabsorb cystine allowing large amounts to pass into the urine, hence the name cystinuria. Cystine can form crystals and/or stones in the urinary tract, which can block the ureters or Urethra and stop the normal flow of urine. Affected male dogs typically present with symptoms related to cysteine bladder stones at 6 to 14 months of age, however female dogs tend to develop symptoms later than males. Symptoms of disease include straining to urinate, frequent urination of small volumes or inability to urinate. In Labrador retrievers, males and females are equally affected with excess cysteine in the urine, but obstruction of urine flow is more common in males due to differences in anatomy and females tend to develop stones about a year later than males on average. Dogs with cystinuria often have recurrent inflammation of the urinary tract and if not treated, urinary stones can cause urinary tract infections, kidney failure and even death.

HNPK~ Hereditary Nasal Parakeratosis~

An inherited disease affecting the nose of Labrador Retrievers. Beginning around 6 to 12 months of age, affected dogs develop dry, rough, gray to brown crusts and rarely, painful cracks on the tip of the nose. In some cases, lesions are also present on the haired area around the nose. The noses of affected dogs are prone to superficial bacterial infections and often become depigmented over time. Affected dogs are otherwise healthy. Symptoms often wax and wane in severity over the dog’s life. Though manageable, this disorder requires continuous topical therapy to prevent recurrence of excessive nasal crusting.

~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 littermates. Severe health complications have not been reported in affected dogs.

~Congenital myasthenic syndrome (CMS)

An inherited Neuromuscular Disease affecting Labrador retrievers. Affected dogs typically present around 2-3 weeks of age with severe exercise-induced weakness of all four limbs leading to collapse. Affected dogs will have decreased reflexes in all limbs and a short-strided gait that becomes more pronounced with exercise. Dogs may be humanely euthanized at a young age due to disease severity. Treatments used for a similar, acquired form of the disease known as myasthenia gravis, are ineffective for CMS.

~Macular corneal dystrophy~ MCD

An inherited, progressive eye disease affecting dogs. Affected dogs frequently present around 4 to 6 years of age with clouding of their corneas accompanied by pinpoint white to gray spots made up of an accumulation of a carbohydrate known as glycosaminoglycan. Some affected dogs will also display growth of new blood vessels across the surface of their corneas. The disease will typically progress to compromise vision.

~Progressive retinal Atrophy, golden retriever 2 (GR-PRA2)

A late onset, inherited eye disease that can also affect Labrador retrievers. Affected dogs begin showing clinical symptoms related to retinal degeneration at around 4 to 5 years of age on average, though age of onset can vary. Initial clinical 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. Progression of the disease leads to thinning of the retinal blood vessels, signifying decreased blood flow to the retina. Affected dogs initially have vision loss in dim light (night blindness) and loss of peripheral vision, progressing to complete blindness in most affected dogs.

~Progressive retinal Atrophy, progressive Rod-cone degeneration (PRA-prcd)

A late onset, inherited eye disease affecting Labrador Retrievers. 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 Labrador Retrievers can first be seen on an Electroretinogram around 1.5 years of age, but most affected dogs will not show signs of vision loss until 4 to 6 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.

~Stargardt disease~

an inherited eye disease affecting dogs. Stargardt disease is caused by the degeneration of both Rod and cone type Photoreceptor Cells of the Retina. These are important for vision in dim and bright light, respectively. Affected dogs present prior to 10 years of age with signs of vision loss including dilated pupils and decreased response to light. On a veterinary eye exam, affected dogs will have changes in reflectivity and appearance of a structure behind the retina called the Tapetum and, may show thinning of the retinal blood vessels. Dogs may not completely lose their vision during their lifetime, but will develop significant loss of vision, especially in well-lit environments.

~Cone degeneration (Labrador retriever type)~

An inherited eye disease affecting Labrador retrievers. Affected dogs develop day blindness (blindness in bright light) and Photophobia (light sensitivity) between 8 to 12 weeks after birth due to degeneration of cells in the eye called cone photoreceptors which are responsible for vision in bright light. Affected dogs have normal vision in low light and structures of the inner eye appear normal on eye exam. The cells responsible for vision in low light called Rod photoreceptors are not affected and thus, affected dogs will still be able to see normally in low light throughout life.

~Hyperuricosuria~ HUU

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.

~Ichthyosis (golden retriever type)~

An inherited condition of the skin affecting dogs. The age of onset and severity of disease are highly variable, however most affected dogs present before one year of age with flaky skin and dull hair. Over time the skin develops a grayish color and appears thick and scaly, especially over the abdomen. The symptoms may progress to severe scaling all over the body, may improve with age, or may come and go over the dog’s lifetime. While the prognosis is generally good for affected dogs, they are at increased risk for skin infections.

~Narcolepsy (Labrador retriever type)~

An inherited disorder affecting Labrador retrievers. Dogs with the inherited form of narcolepsy typically present between one to six months of age with an inability to stay awake for extended periods of time and episodes of collapse and sleep following positive stimulation such as play or food. Affected dogs fall asleep faster than normal dogs and appear sleepy more frequently. During episodes of collapse dogs have a sudden loss of muscle tone and appear uncontrollably sleepy but may or may not completely fall asleep. Symptoms do not progress after one year of age and affected dogs do not have other associated health problems.

~Myotubular Myopathy~

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.

~Pyruvate kinase deficiency (Labrador retriever type)~

An inherited metabolic disease affecting Labrador retrievers. 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.

~Progressive retinal Atrophy, cone-Rod dystrophy 4 (PRA-crd4)~

An inherited eye disease affecting dogs. PRA-crd4 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. Affected dogs can show symptoms of vision loss or have signs of retinal disease on veterinary ophthalmologic exam by 3 years of age. However, age of onset varies significantly in PRA-crd4 affected dogs, and has been reported from 1 to 15 years of age. Mutations in the RPGRIP1 gene show Incomplete Penetrance, meaning that not all dogs inheriting two copies of the Mutation develop clinical disease. This suggests that other unknown genetic or environmental factors may play a role in modifying disease development and progression. Although progression tends to be relatively slow, most affected dogs (especially those with an early age of onset) will progress to complete blindness.

~Intervertebral disc disease (IVDD)~

An inherited disease affecting many dog breeds. A severe form of IVDD is associated with a genetic mutation in the FGF4 gene on canine chromosome 12. This genetic mutation is also identified as one cause of the characteristic trait for short legs (chondrodystrophy) in some dog breeds. Dogs affected with IVDD have premature degeneration and calcification of the cartilage discs that connect the vertebrae and function as shock absorbers for the spine. In some cases, these degenerative changes result in cartilage weakness and subsequent herniation of the discs into the spinal cord, causing Hemorrhage and inflammation. Affected dogs present with a variety of neurological clinical signs including severe back pain, abnormal gait, loss of balance, and limb weakness or paralysis, often requiring surgical intervention. Affected dogs are at risk of experiencing disc herniations at multiple sites along their spine during their lifetime. Therefore, it is common for dogs which have been surgically treated for disc herniation to experience a herniation in another location of the spine later in life. here to edit text

Ehlers-Danlos Syndrome (Labrador Retriever Type) 1

 An inherited Connective Tissue disease affecting Labrador Retrievers. Affected dogs typically present prior to 2 years of age with loose (hypermobile) joints, fragile blood vessels, and excessively elastic skin that is easily torn or bruised and can be stretched beyond limits seen in normal dogs. Dogs may display open wounds, swelling, and scars from previous injuries and are at increased risk for joint dislocation. Dogs may be euthanized due to the severity of the disease and poor quality of life.

Ehlers-Danlos Syndrome (Labrador Retriever Type) 2

An inherited Connective Tissue disease affecting Labrador Retrievers. Affected dogs typically present prior to 2 years of age with loose (hypermobile) joints, fragile blood vessels, and excessively elastic skin that is easily torn or bruised and can be stretched beyond limits seen in normal dogs. Dogs may display open wounds, swelling, or scars from previous injuries and are at increased risk for joint dislocation. Dogs may be euthanized due to the severity of the disease and poor quality of life.

Laryngeal Paralysis and Polyneuropathy (Leonberger Type 3)

An inherited neurological disease affecting dogs. Affected dogs typically present with clinical signs at less than 5 years of age including difficulty breathing, often described as loud and harsh, difficulty swallowing, and changes in the dog’s vocalizations. In severe cases, a dog’s mobility may be affected by an uncoordinated gate, stumbling and tripping, exercise intolerance and muscle deterioration. In some dogs, this condition may be managed with conservative measures such as changes in lifestyle while others require surgical treatment to reduce severe respiratory signs. This condition may result in emergent respiratory distress or aspiration pneumonia which can be fatal.

Myotonia Congenita

An inherited musculo-skeletal disorder affecting dogs. Affected dogs can present as early as 8 weeks of age with a stiff-legged gait. Increased respiratory sounds may occur when the dog becomes excited, and dogs may have difficulty swallowing food and water. In later stages of disease, affected dogs may collapse with a rigid body and extended limbs. Affected dogs recover from collapse quickly and may show gait improvements with prolonged activity. These signs are caused by abnormal electrolyte channels in the muscles. Dogs with a mild presentation may live a normal life, while more severe presentation may require medical treatment with varied success.

Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type) 1

An inherited muscle disease in dogs. Affected dogs present at around 3 to 4 months of age with deformed limbs and hyperflexion of the joints, most notably of the wrist (carpus) and ankle (hock) giving the dog a flatfooted stance. Affected dogs may develop muscle Atrophy over time and have an abnormal gait. The disease is slowly progressive, and dogs can live many years before the disease becomes severe enough to warrant humane euthanasia.

Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type) 2

Ullrich Congenital Muscular Dystrophy (Labrador Retriever Type) is an inherited muscle disease in dogs. Affected dogs present around 3 to 4 months of age with deformed limbs and hyperflexion of the joints, most notably of the wrist (carpus) and the ankle (hock) giving the dog a flatfooted stance. Affected dogs may develop muscle Atrophy over time and have an abnormal gait. The disease is slowly progressive, and dogs can live many years before the disease becomes severe enough to warrant humane euthanasia.

Below is a chart to help you understand how you can safely breed a carrier of a certain gene and be able to control none of the puppies would ever be affected by said gene. There are a lot of top-of-the-line pedigrees and dogs out there that are carriers of genes and with proper responsible breeding, you never have to worry about affected babies.