DNA Test Result Information
We have started recording DNA test results supplied to us so results for those are listed on dog pages.
More info will appear here in time as we determine which tests are relevent to our breed.
| DNA Test | Info | |
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| Von Willebrand Disease Type I (VWF) (Blood Disorders) | A very useful article can be found on the Cornell University website From what we have seen so far, this appears to be one of those "diseases" that shows no apparent symptoms in our breed even when dogs are listed as affected so not something to be overly worried about if your dog tests as affected or carrier. Information provided by Embark with their test results. What is Type I vWD ? Von Willebrand Disease (vWD) is a type of coagulopathy, a disorder of blood clotting. vWD is characterized into three types based on clinical severity, serum levels of vWF, and vWF multimer composition. Dogs with Type I vWD have low vWF levels, normal multimer composition, and variable clinical signs. About Type I vWD When signs & symptoms develop in affected dogs This disease is typically diagnosed in puppies or young adults when they are spayed or neutered and have a problem with clotting. However, it can be diagnosed at any age. How vets diagnose this condition vWD is diagnosed through genetic testing and blood testing at a laboratory. Veterinarians may also nick a dog's lip with a sterile needle and time how long it takes for clotting to occur. How this condition is treated vWD cannot be treated, only managed. Preventing injuries is goal number one. If your dog requires surgery, your veterinarian should be warned that excessive bleeding may occur and blood products need to be on hand in case a transfusion is required. Actions to take if your dog is affected Prevention is key! Minimizing the risk of trauma and informing your veterinarian so that surgeries can be carefully planned are the best ways to prevent a catastrophic outcome. Be aware of the location of the nearest emergency veterinary hospital in case of an accident. Inheritance type Recessive |
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| PRA prcd (PRCD Exon 1) (Eye Disorders) | Progressive Retinal Atrophy, prcd (PRCD Exon 1) This is the variation of PRA present in the American Eskimo Dog and was introduced into the Großspitz via their outcross program using that breed so there are several labs that are now mistakenly listing this as a German Spitz test when it is only relevant to the Großspitz To date, we are not aware of any Klein or Mittel that has tested anything other than Clear for this test so we are aiming to collate results to validate this. Information provded by Embark with their results. What is PRA-prcd ? PRA-prcd is a retinal disease that causes progressive, non-painful vision loss. The retina contains cells, called photoreceptors, that collect information about light and send signals to the brain. There are two types of photoreceptors: rods, for night vision and movement, and cones, for day vision and colour. This type of PRA leads to early loss of rod cells, leading to night blindness before day blindness. About PRA-prcd When signs & symptoms develop in affected dogs The age affected dogs will first show signs of visual impairment varies by breed. However, most begin showing clinical signs in early adulthood. How vets diagnose this condition Veterinarians use a focused light to examine the pupils. In affected dogs, the pupils will appear more dilated and slower to contract. Your vet may also use a lens to visualize the retina at the back of the eye to look for changes in the optic nerve or blood vessels. You may be referred to a veterinary ophthalmologist for a definitive diagnosis. How this condition is treated Currently, there is no definitive treatment for PRA. Supplements, including antioxidants, have been proposed for management of the disease, but have not been scientifically proven effective. Actions to take if your dog is affected Careful monitoring by your veterinarian will be required for the rest of your affected dog's life as secondary complications, including cataracts, can develop. With blind dogs, keeping furniture in the same location, making sure they are on a leash in unfamiliar territory, and training them to understand verbal commands are some of the ways to help them at home. Inheritance type Recessive |
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| Degenerative Myelopathy, DM (SOD1A) (Neurological Disorders) | Information provided by Embark with their test results. Gene: SOD1 Inheritance type: recessive A disease of mature dogs, this is a progressive degenerative disorder of the spinal cord that can cause muscle wasting and gait abnormalities. Affected dogs do not usually show signs until they are at least 8 years old, where the first signs of neural degeneration appear in the nerves that innervate the hind limbs. You may notice your dog scuffing the tops of his or her hind paws, or walking with a hesitant, exaggerated gait. In advanced cases, lower motor neurons are also affected leading to weakness or near-paralysis of all four legs and widespread muscle wasting. Given the advanced age at the time of onset, the treatment for DM is aimed towards making your dog comfortable in his or her old age and includes lifestyle changes and physical therapy. SOD1 codes superoxide dismutase, an enzyme important in neutralizing free radicals and reactive oxygen species, both of which are produced as a byproduct of cell metabolism. If not neutralized, these are injurious to the cell and will cause premature cell death. The first system to show effects of this is the nervous system given the highly specialized and delicate nature of these cells. Please note that these mutations are reported to have incomplete penetrance: that is, while a dog with two copies of this mutation has a much greater chance of developing DM than a dog with one copy of the mutation, or none at all, other genetic and environmental factors will also contribute to whether your dog develops DM. |
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| ALT Activity (Alanine Aminotransferase Activity) (Other) | What is Alanine Aminotransferase Activity ? Alanine aminotransferase (ALT) is a clinical tool that can be used by veterinarians to better monitor liver health. This result is not associated with liver disease. ALT is one of several values veterinarians measure on routine blood work to evaluate the liver. It is a naturally occurring enzyme located in liver cells that helps break down protein. When the liver is damaged or inflamed, ALT is released into the bloodstream. About Alanine Aminotransferase Activity How vets diagnose this condition Genetic testing is the only way to provide your veterinarian with this clinical tool. How this condition is treated Veterinarians may recommend blood work to establish a baseline ALT value for healthy dogs with one or two copies of this variant. More information This genetic test can be used as a clinical tool by veterinarians. Veterinarians reference a range of laboratory values when deciding if a dog's ALT level is normal. Dogs with one or two copies of this variant have an ALT value that is low or on the low end of the normal reference range. Vets can use this test to determine the significance of an increased ALT value. Gene name GPT Inheritance type Codominant |
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| DNA Profiling (DNA Profiling) | DNA Profiling for dog identification and/parentage verification. | |
| Progressive Retinal Atrophy (PRA5 type) (Eye Disorders) |
