Tag archives: veterinary medicine

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 ...

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 ...

With the current, rapid pace of new genetic discoveries, inherited disease testing is quickly becoming a common part of clinical veterinary diagnostics. Paw Print Genetics is excited to announce the release of six new canine genetic disease tests, including highly anticipated tests for three diseases in retriever breeds; macular corneal dystrophy and congenital myasthenic syndrome in the Labrador retriever and neuronal ceroid lipofuscinosis 5 in the golden retriever.

Macular Corneal Dystrophy

With an estimated mutation carrier rate of 3.3% in a 2015 study of the UK Labrador retrievers, macular corneal dystrophy (MCD) is an inherited eye disease that that is likely to be encountered at some point in a small animal veterinarian’s career¹.

Inherited in a recessive manner, Labradors with two copies of the associated CHST6 gene mutation typically present in middle age with MCD-associated vision loss. Affected dogs display decreased activity of an enzyme known as corneal glucosamine N-acetyl-6-sulfotransferase (C-GlcNAc6ST), which results in decreased sulfation of the corneal glycosaminoglycan, keratin sulfate (KS). Decreased sulfation of KS reduces its solubility, thus preventing its full metabolism and allowing for deposition into the extracellular space of the corneal stroma and Desmet’s membrane, and intracellularly in keratinocytes and corneal epithelial cells ...

Some of the most emotionally challenging canine cases seen in the veterinary hospital are those involving serious illnesses of newborns or young puppies. Owners’ joyous expectations of a long, healthy relationship with their new puppy makes a disease which decreases that puppy’s quality of life or results in early euthanasia, all the more heartbreaking. Though infectious diseases like parvovirus are often of particular concern in young pups, some puppies ending up on the exam room table show signs of one of a wide array of inherited diseases caused by a known genetic mutation. Unfortunately, limitations in available therapies for many inherited diseases often lead to frustrating and emotional outcomes for all the parties involved; veterinarians and veterinary staff included. Thereby, making prevention of inherited disease through the use genetic testing, an essential part of healthy dog breeding.

Historically, methods to prevent inherited diseases have been limited to selective breeding practices. However, an inability to identify asymptomatic carriers of recessively inherited diseases or dogs in the preclinical phase of late-onset inherited diseases, have traditionally made great reductions in disease incidence difficult to obtain through selective breeding alone. Genetic testing is now playing an important role in identifying these dogs such that ...

The expanding role of the dog over recent decades as an anthropomorphized member of the modern American family has led to an increase in dog owners’ expectations of their veterinarians. With social media, where the old adages about the number of people a dissatisfied client will tell about their experience can be easily multiplied by a factor of hundreds, the pressure to meet client expectations is more intense than ever.

Far more actionable than the commonly used genetic testing for canine breed identification, canine genetic disease testing is an accurate and reliable tool to help veterinarians meet their clients’ expectations in new ways. Genetic testing for a variety of inherited diseases has become commonplace in the dog breeding community to help breeders produce puppies free of particular maladies. However, as we know, not every dog seen in practice is the product of two purebred parents which have been genetically tested and vetted to make sure they are a good genetic match. Having a solution to easily perform canine genetic disease testing for any dog in a clinical setting, no matter the breed, adds a level of sophistication and progressiveness to your practice which can also supplement and improve your overall ...

With canine genetic disease testing becoming an increasingly common practice in both pets and breeding dogs, more and more veterinarians are being tasked with assisting their clients with sample collection for genetic testing. Paw Print Genetics (PPG) accepts a large variety of sample types that can be used for DNA extraction. In some cases, certain sample types may be much more convenient or logical to submit for testing than others.

Paw Print Genetics has begun a new series of blogs aimed at helping veterinarians integrate genetics into their practice. These blogs help illustrate how the veterinarian might include discussions about genetics during new puppy visits, while helping a breeder with their breeding program, or considering genetic causes in developing a differential diagnosis for symptomatic dogs.

Veterinarians can assist clients in receiving genetic services in several ways. First, the vet may simply provide the dog owner information about testing options and clarify any questions that they might have.  Second, the veterinary staff assists the owner in setting up an individual account and performs the blood draw or cheek swabbing for the customer.  In this case, the genetic results would be uploaded to the customer’s account and the customer would have direct access to the information. Third, the veterinary clinic can set up a master account on the Paw Print Genetics website. Each customer’s dog is entered into the master account as orders are placed. For each dog, there is a field that allows the clinic staff to enter the dog owner’s name and contact information. After testing, the genetic results are uploaded to the clinic’s master account and the ...