What We Test For. . .

​Genetic DNA testing is important and should be done on all dogs in a breeding program to help insure the health and longevity of all puppies produced.

All breeding dogs or dogs competing in performance venues should have their hips and elbows evaluated with the Orthopedic Foundation of America (OFA) or PennHIP prior to being used in a breeding program.

DM  Canine 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.  Dogs can become paraplegic, loss of urinary and fecal incontinence may occur.

CEA  Collie Eye Anomaly is an inherited disease that affects the choroid layer of tissue and 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.

Neuronal Ceroid Lipofuscinosis 6 is a lysosomal storage disease affecting Australian Shepherds. Affected dogs lack a specific Enzyme necessary for normal metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders. Affected dogs present around 1.5 years of age with progressive neurologic disease. Symptoms include loss of vision, behavioral change, anxiety, lack of muscle coordination and abnormal gait. Affected dogs are often humanely euthanized by 2 years of age due to progression of the disease.
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HC  Hereditary 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.

MDR1  Multidrug Sensitivity 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, including Australian Shepherds, a mutation occurs in the MDR1 gene that causes sensitivity to Ivermectin, Loperamide, and a variety of other drugs. The defective protein inhibits the dog's ability to remove certain drugs from the brain, leading to a buildup.  As a result of the accumulation of these toxins, the dog can show neurological symptoms, such as seizure and even death.

​PRA/PRCD  Progressive Rod-Cone Degeneration 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 and loss of peripheral vision. Loss of complete eyesight can result.

CD  Cone Degeneration is an inherited eye disease affecting Australian Shepherds.  Affected dogs develop day blindness (blindness to bright light) and light sensitivity between 8 and 12 weeks of age 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 exams.

I-GS Intestinal Cobalamin Malabsorption  is an inherited disease affecting Australian shepherds. Affected dogs are unable to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) after weaning, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs have an increase in certain proteins in their urine, and have decreased synthesis of blood cells resulting in Anemia and decreased numbers of neutrophils. Affected dogs require cobalamin supplementation for life that results in disease remission for most animals within a few weeks. Though not associated with clinical disease, affected dogs will continue to pass increased amounts of certain proteins in the urine even with cobalamin supplementation.                   
NCL, NCL8 Neuronal Ceroid Lipofuscinosis 8  is a lysosomal storage disease affecting Australian Shepherds. Affected dogs lack a specific enzyme necessary for normal cellular metabolism. As a result, there is an abnormal accumulation of waste compounds primarily in the cells of the nervous system, leading to a range of nervous system disorders.

HUU Hyperuricosuria is an inherited condition affecting Australian Shepherds. 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.

​OFA Eye Exams should be performed on all puppies prior to 8 weeks of age and yearly thereafter, by a licensed veterinary ophthalmologist. Some eye diseases can occur at several ages.  At 8 weeks of age, many diseases can be diagnosed and after they are diagnosed, they will not disappear or go normal later in life. Some diseases will get better or worse with age or change their appearance.  A puppy can pass an OFA exam at 8 weeks and at a year, and not pass a OFA exam at 2 years because they developed a disease. Dogs should have a OFA exam every year to ensure that they have not developed serious ocular diseases that occur after dogs are one or 2 years of age.