Tag archives: dna dog test

Von Willebrand disease (vWD) is arguably the most well recognized canine blood clotting disorder. A common genetic mutation in the VWF gene (first described in the Doberman pinscher in 2001) has played a significant role in increasing the recognition of vWD as a cause of clotting problems in dogs¹. Genetic testing for this mild to moderate platelet disorder, known as vWD type 1 (vWD1 or vWDI), has played an important role in assisting veterinarians in diagnosis and in assisting breeders in identification of non-symptomatic carriers of the mutation prior to breeding. Since that time, dozens of other breeds have also been found to be affected by the same mutation. Thus, solidifying vWD as a potential concern for many dog lovers. In addition, other genetic mutations in the VWF gene have also been associated with more severe forms of von Willebrand disease (type 2 and type 3) in some breeds.

Despite the important role of testing some breeds for the identified vWD1 mutation, it is also important to keep in mind that hemostasis is an incredibly complex process involving multiple physiologic steps and the interaction of many protein clotting factors, various cell types, and endogenous molecules. In some breeds, other ...

To usher in 2022, Paw Print Genetics (PPG) has added 12 new canine disease and trait tests to expand upon the largest selection of canine genetic tests in the industry. However, because diseases seen in veterinary practice are not seen with equal frequency, here I will highlight five of the new test offerings for diseases that are among the most likely to be encountered in veterinary practice. 

Ataxia (Norwegian Buhund Type)¹- Norwegian Buhund

Ataxia (Norwegian buhund type), also known as cerebellar ataxia, is an early-onset autosomal recessive neurological disease affecting the Norwegian buhund. Dogs inheriting two copies of the associated KCNIP4 gene mutation present between three and five months of age with progressive neurological disease. Initial clinical signs are consistent with cerebellar ataxia, including wide-based stance, hypermetria, head tremors, and truncal sway. As the disease progresses, dogs are eventually unable to stand or walk without falling. Cerebellar degeneration is a common histopathological finding in affected dogs and dramatic reductions in cerebellar KCNIP4 protein have been described. The speed of disease progression is variable, but affected dogs are often euthanized due to quality-of-life concerns.

In one study, 19% out of 146 apparently healthy Norwegian buhunds tested carried one copy ...

By Casey R. Carl, DVM and Blake Ballif, PhD

A topic in veterinary genetic testing currently getting significant attention is the difference between direct and indirect genetic testing for mutations associated with various diseases and traits. Although both types of testing can play a useful role in determining a dog’s genetic health status, the use of indirect genetic testing comes with some additional caveats that need to be considered when selecting the best testing strategy for a particular dog.

Direct Genetic Testing

As the name indicates, direct genetic testing is a general term for any genetic testing technique which looks for the presence of the specific genetic variant (mutation) known to play a causal role in a particular disease or trait. Therefore, regardless of which genotyping technique used, test results obtained from direct testing identify the presence or absence of the specific mutation that has been associated with the disease or trait. Barring differences in quality of laboratory practices and test development, direct testing is therefore the ideal method to detect a specific mutation. Furthermore, identifying the precise causative mutation in a DNA sample from a dog allows one to draw appropriate conclusions about the implications of this mutation in this ...

Sample cheek swabs are the easiest and least invasive means of collecting cells containing genetic material from your dog. Although it is a simple process, it is important that you fully understand how to collect a sample using a cheek swab. Follow along with us as we walk you through the swabbing process using one of our sample kits.

Each kit includes a requisition form, a return mailer, a label, and a cheek swab with a biohazard bag. After reviewing the form that came with your kit, you’re ready to start the collection process. If swabbing a puppy, it is best not to take samples from a puppy that hasn’t been weaned because some of the mother’s DNA can be present due to nursing, which can contaminate the sample. Be sure to also wait for at least an hour after the dog eats or plays with shared toys before attempting to swab; excess saliva and food particles can compromise testing and reduce the quality of a sample.

When you are ready to begin swabbing, remove the swab from its protective packaging and be careful to not let anything touch the tip of the sponge. Insert the sponge between your dog's ...

Paw Print Genetics was started in 2012 with the vision of improving the health of dogs through genetic testing, education, and counseling. Since then, we have not only contributed to improving the health of dogs but have provided the largest menu of tests with outstanding customer care, an unparalleled website for managing your dogs, orders and results, with the utmost laboratory standards in the industry.  We offer testing for more than 350 breeds of dogs, including diseases, disease risk factors, coat colors and traits and have launched other genetic testing services including a comprehensive genetic screen for dogs (Canine HealthCheck), the largest genetic screen for cats (CatScan) and sex identification for monomorphic birds (AvianDx). 

I am so grateful for our talented staff of PhD geneticists, veterinarians, biologists, and customer care specialists who have worked so hard to bring you the highest testing accuracy and best customer service available. We even found time this year for research and publishing with the discovery of the first dog identified with an extra chromosome 38, a new mutation causing longhair in Maine coon cats, and further characterization of dapple (merle) mutations in dachshunds.

The greatest compliment a business can receive is a ...

2021 has been an exciting year for Paw Print Genetics (PPG) and canine genetic health. With the addition of 15 new genetic disease and trait tests in July 2021, PPG has now added more than 50 new canine test offerings this year alone! However, when it comes to specific genetic diseases, variability in the population size of affected breeds and the frequency of the associated mutations, means that some diseases are much more likely to be seen in veterinary hospitals than others.

Here we will highlight four new genetic disease tests offered at PPG for canine diseases common enough to be seen in general veterinary practice. In addition, we will briefly discuss PPG’s new web-based disease and coat color probability calculators which assist breeders and veterinarians in selecting ideal parents for producing healthy puppies in the coat colors and patterns desired.

Progressive Retinal Atrophy (Giant Schnauzer Type)¹- Giant Schnauzer, German Spitz, German Spitz Klein, Keeshond, Miniature Smooth and Longhaired Dachshund, Pomeranian

Progressive retinal atrophy (Giant Schauzer Type), also known as generalized PRA or PRA5, is an autosomal recessive form of PRA affecting the giant schnauzer and several other breeds. Dogs inheriting two copies of the associated NECAP1 gene ...

Paw Print Genetics is excited to tell you about 15 new tests that were just launched!  Among these new tests are three new trait tests that cause light colored dogs in various breeds. These new traits are sable in Cocker spaniels, white in Alaskan and Siberian huskies, and cream in Australian cattle dogs. What’s super interesting is that these new tests all involved DNA changes in the E locus.  Most are already familiar with the E (extension) locus, as DNA changes or variation in the MC1R gene inhibits the production of the black pigment, eumelanin, and allows the yellow/red pigment to show (phaeomelanin) and causes the coat color to be light, such as apricot in poodles, yellow in Labradors, and red in Irish Setters.  For the specific breeds mentioned above, you can now test specifically for the E^h variation found in some sable Cocker spaniels, or the e² variation found in cream colored Australian Cattle dogs, or the e³ variation found in Alaskan and Siberian huskies. For all other breeds, you can just continue to order the common E locus variant to find out if your dog carries for yellow. Remember, white/yellow/red ...

Canine progressive retinal atrophy (PRA) is a group of inherited eye diseases which are among the most common causes of inherited blindness in domestic dogs. Extensive study and characterization of the various PRAs have led to the discovery of well over a dozen different genetic mutations in many different genes which can now be identified to help prevent, predict, or diagnose PRA in many breeds. However, complicated PRA naming schemes and the breed-specific nature of the PRA tests can make it challenging for dog breeders or veterinarians to select the correct test for the dog in front of them.  

Multiple Genes, Similar Clinical Findings

The known underlying mutations associated with the various forms of PRA are found in a wide variety of different genes. Thus, highlighting the complexity of the biological pathways involved in the development and ongoing maintenance of the eyes. PRAs are marked by the abnormal development and/or the gradual degeneration of rod and cone photoreceptor cells of the retina. Each type of PRA may display variation in the age of onset, speed of disease progression, and the relative rates at which each of the two photoreceptor types are destroyed. However, when it comes to clinical ...

Today, April 25^th, is National DNA Day. This day commemorates the completion of the Human Genome Project in 2003 and the discovery of the DNA double helix, our blueprint of life, in 1953.  The first sequence of the Canine Genome was published only a couple of years later in 2005.  Since then, more than 3,500 species have had some of their genomes sequenced, with about 100 species having their genomes sequenced at a ‘reference quality’ meaning that they can be used to see differences among individuals and used to find genes that are responsible for certain diseases or traits.  Having the dog genome sequence has allowed researchers to identify genetic variants that make some dog breeds unique and have provided the ability to find mutations or genetic changes that are responsible for common and rare diseases.

Currently, more than 300 genetic changes in dogs are known that lead to phenotypic differences (the way a dog looks) or lead to inherited diseases.  Knowing these DNA changes or mutations allows laboratories like Paw Print Genetics to develop tests for these so that dogs can be tested to see if they are at-risk for a disease or to ...

The impact of canine genetic testing on veterinary medicine continues to grow as dog owners become increasingly interested in the genetic factors underlying their dogs’ health and how knowledge of these factors may improve the lives of their furry companions. Genetic screening tools which test for large numbers of deleterious genetic mutations, such as the Canine HealthCheck (CHC) developed by Paw Print Genetics (PPG), are particularly useful when performed on a young dog to identify specific inherited health concerns; especially in cases where the lineage of the dog is unknown.

Early Screening, Faster Diagnosis

Among the tests performed on the CHC are disease tests which may prove invaluable in decreasing client costs associated with diagnosis, increasing speed of diagnosis, or improving medical outcomes. For example, many tests included on the CHC, such as the test for the neurological disease, degenerative myelopathy (DM) are adult-onset conditions which may not be observed in a dog until it has reached late adulthood. DM is a progressive disease caused by a genetic mutation in the canine SOD1 gene which can only be definitively diagnosed after death through histologic examination of the spinal cord because antemortem diagnostic methods fail to yield pathognomonic results. In addition ...