The Paw Print Genetics Blog

Direct vs Indirect Genetic Testing

Direct vs Indirect Genetic Testing

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

Tips on Sample Collection

Tips on Sample Collection
Cheek swab

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 ...

Feeling Grateful

Feeling Grateful

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 ...

Four things to Consider Before Buying

Four things to Consider Before Buying

Four things to Consider Before Buying

Whether you are looking to adopt from a breeder or a shelter, it is important to thoroughly think the decision over. While we want pups to be adopted, we also want to ensure the dog is a good match for home & lifestyle

If you are thinking about adding a new addition to your family, here are a few thoughts to consider and questions to ask yourself before adopting a dog.

 

1. Your Living Space

 

Do you live in an apartment? Do you have a backyard? Does your home have a lot of stairs? These are all good questions to ask yourself as some dog breeds have different needs when it comes to living spaces. Breeds with long backs and short legs, such as Corgis, can injure themselves by ascending or descending stairs. On the other hand, high energy breeds such as Australian Shepherds, thrive by having a backyard that they can run freely in. By considering these items, you can ensure a successful fit for your home.

 

2. Other Family Members

 

Who lives with you? Do you have small children or other animals? Certain dog breeds do better with ...

Hosting a Health Clinic

Hosting a Health Clinic

We often receive the question from clubs, “Can you send us supplies for collecting samples at our show or health clinic event?” The answer is YES. You may have a cardiac or eye clinic planned and would like to also offer genetic testing at your event. If this is something you and your health committee have discussed or are curious about, read on!

We may not always be available to be on site at your event to facilitate swabbing, but we are happy to provide helpful instructions and materials to make genetic testing at your event as paw-sitive an experience as possible.

What we need from you

Please provide us with your event name and/or club name, the date of your event and whether it is an all-breed show or breed specific. Let us know a general number of how many attendees will be interested in genetic testing their dogs at your clinic or event so we know how many items to send.

We will need your name, email, phone number and an address for shipping supplies.

A volunteer or two who can be present to assist customers in filling out their order form and swabbing their dog ...

Interpreting Risk-Based Genetic Tests Part Two: Examples of Genetic Testing that offer Risk Assessments.

Interpreting Risk-Based Genetic Tests Part Two: Examples of Genetic Testing that offer Risk Assessments.

In the first part of this examination of risk assessment and genetic testing, I dissected the concept of risk.  Although relative risk is incomplete without the perspective provided by absolute risk, logistical constraints within veterinary research often limit this perspective.  There is still value to these tests. In this next entry, I want to look at specific genetic tests where the result is functionally a risk assessment.  Hopefully, you will better understand how to use the information provided by these tests with the goal of producing better dogs with each generation.    

Genetic testing for dermatomyositis (DMS) is a true risk assessment test. Results from this test place a dog in risk categories of low, medium, high, and unknown.  This type of risk assessment is uncomplicated.  For each possible genotype listed in the report, the percentage of affected dogs in that group has been determined. Based on the genotype, the likelihood of an individual dog developing DMS is classified as low (0% - 5%), moderate (33% – 50%), or high (90% – 100%).  These percentages correlate with the absolute risk for these dogs. With this test result, decisions about breeding a dog can be made ...

Interpreting Risk-Based Genetic Tests: What is Risk?

Interpreting Risk-Based Genetic Tests: What is Risk?

Paw Print Genetics offers tests that can be categorized into two types.  Most tests offered directly test for a DNA change (or mutation) that causes a disease. For a small number of diseases, we test for a mutation that increases “the chance” that a dog will develop a disease. These have been termed risk variants. Recently, we have been getting a lot of questions about these risk variants and what a positive result means for your dog.  One example is dermatomyositis (DMS) testing, which generates an associated risk (low, moderate, high, or unknown) for this skin condition.  Chondrodystrophy (CDDY) is another example in which the test is for a mutation that causes abnormal cartilage formation and having the mutation may put a dog is at an increased risk for intervertebral disc disease (IVDD).  If you have a Labrador that carries one or two copies of the ATP7B mutation for copper toxicosis, this mutation puts a dog at a greater risk of developing the disease compared to dogs without the mutation. This risk may be mitigated if the dog also has one or two copies of the ATP7A protective mutation for copper toxicosis, which may reduce the ...

The Veterinarians Corner- 2021: A Banner Year for Canine Genetic Health

The Veterinarians Corner- 2021: A Banner Year for Canine Genetic Health

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 ...

New Coat Color/Trait and Disease Probability Calculators

New Coat Color/Trait and Disease Probability Calculators
Photo: Brendan Gleeson

Paw Print Genetics is excited to announce the release of our new Coat Color/Trait and Disease Genotype Probability Calculators on our website. These new tools allow breeders to calculate the possible outcomes from potential breeding pairs based on their genetic test results. The Coat Color/Trait Calculator can be used by the general public and both the Coat Color/Trait and Disease Calculators can be used by Paw Print Genetics customers specifically for their dogs that have results from PPG testing.

Both calculators can be found on our website at www.pawprintgenetics.com. After you login, under ‘My Account’ scroll down and click on either calculator. The Coat Color/Trait Calculator can also be found at https://www.pawprintgenetics.com/products/traits/calculator/.

What do the calculators do?

Have you ever wondered what the outcome of a particular breeding might be? Will the puppies be healthy? What will they look like? What if the potential dam and sire are both carriers of a genetic disease? What are their risks of having an affected puppy? What color will the puppies be? Will they have long, short, or curly hair? For some breeders, calculating the outcome from a breeding between two ...

Paw Print Genetics Launches 15 New Tests

Paw Print Genetics Launches 15 New Tests

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 Eh 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 ...