Tag archives: Canine Genetic Disease

National DNA Day

National DNA Day

Today, April 25th, 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 ...

Paw Print Genetics Launches Six New, Highly Anticipated Disease Tests

Paw Print Genetics Launches Six New, Highly Anticipated Disease Tests

Paw Print Genetics is excited to announce that it has launched six new, very desired disease tests.  These tests compliment the breed-specific assays that PPG already offers and shows our dedication to providing the largest menu of genetic tests for dogs. The following tests can be ordered as individual tests or may be found as part of one of our breed-specific panels. The breed-specific panels represent the most common and/or severe conditions in your breed and these tests should be considered for any breeding dog.

 

Acral Mutilation Syndrome

Acral Mutilation Syndrome, or AMS, is a neurologic disease affecting Cocker Spaniels, English Cocker Spaniels, English Spring Spaniels, French Spaniels, German Shorthaired Pointers, Old English Sheepdogs and the Pointer. This inherited disease can present around 4 months of age with insensitivity to pain in the lower limbs, repetitive licking and biting of the paws, which eventually can result in self-mutilation. Because affected dogs are unable to feel pain in their feet, they will continue to walk without obvious discomfort. This is an autosomal recessive condition that requires two copies of the mutation to be affected. Screening for carriers will allow breeders to avoid producing puppies with this condition.

Craniomandibular ...

New Test for Golden Retrievers - Neuronal Ceroid Lipofuscinosis 5 (NCL5)

New Test for Golden Retrievers - Neuronal Ceroid Lipofuscinosis 5 (NCL5)

As part of our commitment to raising the standard in canine genetic disease testing, the team at Paw Print Genetics works hard to assess the validity of genetic mutations published in the medical literature and to develop new disease tests based upon this information. The most recent test to be added to our extensive disease testing menu is for a disease known to be inherited in golden retrievers called   neuronal ceroid lipofuscinosis 5.

What is neuronal ceroid lipofuscinosis 5?

Neuronal ceroid lipofuscinosis (NCL) is an inherited neurological disease belonging to a group of diseases called lysosomal storage diseases. There are multiple types of NCL, each given a number designation based upon the specific gene in which the associated genetic mutation is found. For example, dogs diagnosed with neuronal ceroid lipofuscinosis 5 (NCL5) have inherited a genetic mutation in the canine CLN5 gene. Although there are multiple dog breeds known to inherit NCL5 due to mutations in this gene, the specific mutation responsible for this disease in golden retrievers has only been found in this breed; thus, making testing for NCL5 in golden retrievers breed-specific.

What do the symptoms include?

Dogs affected with NCL5 are born with a deficiency of a ...

The Complexities of Genetic Testing and Counseling: Accuracy, Penetrance and Validity, Oh My!

The Complexities of Genetic Testing and Counseling: Accuracy, Penetrance and Validity, Oh My!
Photo showing the diversity of coat colors and patterns within the Australian Shepherd.

As a laboratory that works directly with breeders and dog owners, Paw Print Genetics (PPG) is often asked to reassure the customer that our tests accurately determine whether a dog will get a disease.  The customer is actually asking a couple of different questions; one involving the accuracy of the test itself and one regarding the clinical validity of the test. It is important to understand the questions being asked so that the answers make sense.

The first question being asked is: Does the test perform accurately to determine if a dog is normal/clear, a carrier of one copy of the mutation or at risk, having two copies of the mutation. At PPG, our tests are extensively validated and must show 99.9% specificity and sensitivity before being available for ordering. Sensitivity is defined as the proportion of samples with a known mutation that are correctly classified/identified as carrier or at risk by their genotypes. Specificity is defined as the proportion of samples with no known mutation that are correctly classified/identified with the wildtype (normal) genotype for the disease.  This all refers to whether the test result accurately reflects the true genotype of the individual. At ...

Paw Print Genetics Offers Tests for the Alaskan Malamute

Paw Print Genetics Offers Tests for the Alaskan Malamute

Genetic testing is important for any breed, for the dog’s individual health and wellbeing as well as for any breeding dogs to ensure healthy puppies in future generations. Paw Print Genetics offers genetic testing for three diseases known to occur in the Alaskan Malamute. Testing for these diseases provides you the information that you need to keep your dog healthy and to select appropriate breeding pairs to avoid producing affected puppies.

The first disease is the Alaskan Malamute Polyneuropathy. This disease is an inherited neuromuscular condition that affects dogs between the ages of 3 and 19 months of age. The first signs of this disease may be a change in their bark, noisy breathing, exercise intolerance and loss of hindlimb coordination. The disease is progressive resulting in muscle wasting, abnormal gait or inability to walk. Testing of this disease is required for CHIC and using results in your breeding program can eliminate producing affected pups.  This disease is inherited in a recessive manner meaning that two copies of the mutation are required to produce the symptoms of polyneuropathy. Dogs that have one copy of the mutation are carriers and are not affected. Breeding carriers to clear (normal) dogs will ...

Cheek Swabs Serve a Very Important Purpose

Cheek Swabs Serve a Very Important Purpose

Canine genetic testing is somewhat of a mystery for non-scientists who are just starting to learn more about the ins and outs of the genetic world. I was recently given the opportunity to tour Paw Print Genetics’ state of the art laboratory and was amazed at what is possible to achieve with the sample after the simple act of swabbing a dog’s cheek.

During the tour, it dawned on me that one of the most important parts of the process of genetic testing is the moment when the cheek cells are being collected. Although the process itself is not complicated, it is still important to make sure to collect as many cells as possible and avoid collecting foreign matter that might interfere with the testing or confound the results. The cells that are being collected are dead skin cells, comparable to how we shed skin from our arms. It is a painless process for the dog but  might make them a little uncomfortable so having a friend help  collect the cells would be a good idea.

Optimal collection of cells  is achieved when the inner cheek surface is brushed for a slow count of 30 using the cyto-brushes provided by ...

We have a lot to be thankful for!

We have a lot to be thankful for!

At Paw Print Genetics, we are so thankful for our customers. Without you, we simply wouldn't exist. Without your input, we wouldn't have some of our recently launched programs such as Veterinary Verification reporting, Paw Print Pedigrees and Clear by Parentage certificates, as these, and many other features and tests that we offer have been suggested by our customers.  We see our customers as our partners, suggesting changes, tests and features that enhance your testing experience with us.  

After a report has been issued, I send each customer an email thanking them for their business and for their commitment to healthy dogs.  These take time, but I feel that these emails are important to send. The emails remind me of how important it is to connect with our customers, to reach out to see if there is anything else that we can do for them, to ask if there are ways we can improve our service, and to provide a little reward for being a responsible breeder with a discount on their next order.  Will I be able to keep this up as we grow?  I hope so.  It provides such a great opportunity to get feedback from our customers and I receive ...

Genetic Disease Testing and the Hunting Labrador- Protecting Your Investment

Genetic Disease Testing and the Hunting Labrador- Protecting Your Investment

You’ve spent a small fortune and an immense amount of time selecting, purchasing, socializing, and training your young Labrador retriever, Charlie, for the big hunt. It’s the first hunt of his career and he’s amped! As you are getting everything out of your truck, you let Charlie out of his crate to run around and explore a little. He disappears for several minutes as you are getting your gear and you call him back to you. However, when he returns, you notice that Charlie seems wobbly in his rear end and eventually his hind limbs collapse. He attempts to keep running, but drags his hind limbs for a short distance before giving up and lying down. Uncharacteristic for Charlie, he won’t get up when you call him and he no longer seems to be as interested in the hunt. After comforting Charlie for several minutes, he gets back up on his feet, though you can still see that he is a little wobbly. After several more minutes, Charlie is back to his jovial self with little indication that anything was wrong.

Unfortunately, the scenario described here is not a terribly uncommon story among Labrador owners and those that hunt with ...

Paw Print Genetics Review by Tina Cox at Misty Shores Chesapeakes

Paw Print Genetics Review by Tina Cox at Misty Shores Chesapeakes
Photo Courtesy of Michelle Keehn and Misty Shores Chesapeakes

The following is a review written by a Paw Print Genetics' customer, Tina Cox, reposted here with her permission.  You can find her entire review on her website


Paw Print Genetics Review
by Tina Cox

Recently I used Paw Print Genetics to do some genetic testing on Maia.

I was introduced to them a couple years ago through friends on Facebook. I kept seeing all these posts about the site so I thought I should check this out. What I found was a place to do my major genetic testing at a price I could afford while not skimping on quality. This is from the homepage of their website…

Highest Industry Standards and Accuracy

Our laboratory is staffed with expertly trained geneticists, veterinarians, and technicians. We are equipped with the latest testing technology and analyze each mutation with two independent methods to provide you the highest accuracy in the industry. 

  • All mutations offered are based on the published, medical literature
  • Board-certified geneticist by the American Board of Medical Genetics on staff
  • Each mutation is tested twice, with two independent methods
  • All results are reviewed and reported by both a PhD geneticist and a veterinarian
  • Majority of test results accepted ...

Paw Print Genetics Now Offers Veterinary Verification Option for Your Samples

Paw Print Genetics Now Offers Veterinary Verification Option for Your Samples

Paw Print Genetics understands that our customers know what’s best for their breeding programs and what they need from a laboratory. Our customers are the experts and that’s why we listen closely and ask questions. Doing so has resulted in Paw Print Pedigrees, a free website that Paw Print Genetics customers can use to promote their kennels and show off their health tested dogs. Another feature recently added is our Clear by Parentage program, which allows the breeder to get Clear by Parentage certificates on any pup resulting from health tested, parentage-proven parents. Because our customers asked for it, Paw Print Genetics now offers an optional, Veterinary Verification for samples collected by a veterinarian and submitted to us for testing.

Veterinary Verification is an optional and voluntary program offered by Paw Print Genetics that allows breeders to confirm the identity of their dog by having a veterinarian collect the sample and verify a permanent identifier for that dog (microchip number or tattoo). There is a simple form that must be completed by the veterinarian and this form must accompany the sample to the laboratory.

Having a verified sample may provide puppy buyers extra assurance that the test results they receive ...