Tag archives: canine genetic disease testing

One of the goals at Paw Print Genetics (PPG) is to add to our large menu of tests whenever we can. New genetic changes found in the dog genome for diseases and traits are published periodically in the medical literature. These publications guide us in developing new tests for our customers.

Among the new tests launched this month are three tests for traits. Two of the tests will identify whether a dog carries for polydactyly, which results in having hind dewclaws. One of the polydactyly variants in the LMBR1 gene will cause hind dewclaws in many different breeds, while the mutation in ALX4 only causes polydactyly in the Great Pyrenees. Both variants are dominant, meaning that one or two copies will result in polydactyly. Interestingly, the mutation for the Great Pyrenees causes double dewclaws, whereas the mutation in LMBR1 causes just single dewclaws.

The third trait launched is for another E locus variant. PPG offers several E locus variants, so it is important to read the description of each before choosing your test. Most breeds will produce a yellow or red coat color when there are two copies of the ‘e’ allele from the common E locus variant.  However ...

Paw Print Genetics has a history of supporting genetically healthy breeding no matter the breed. With the rising popularity of various doodles and other mixed breed dogs, we created panels for the diverse poos and doodles that contain the most common and important genetic tests from the founder breeds. These panels have become essential components for many breeders as they strive to produce the healthiest puppies possible.

From time to time, we review all our panels to ensure that they contain the most appropriate tests. Tests are selected for the Essential Panel (or just the Panel if there are only a few tests for a breed) based on (1) the frequency that we are identifying a specific mutation in the founder breeds, (2) the severity of the condition, with more severe conditions that should be avoided included in the Essential Panels and (3) the availability of treatments for the condition. Panels will vary among the doodles and poos based on the founding breeds, so it is important to select the panel that best fits your mixed breed dog.

We recently reviewed the panels for doodles, poos and other mixed breed dogs. You can search your breed by clicking here. You may ...

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 ...

With the rapid expansion of feline and canine genetic disease testing popularity over the past several years, today it is more common than ever for veterinarians to be asked to interpret genetic test results for their clients and offer recommendations based upon the results. However, the team at Paw Print Genetics (PPG) realizes that genetic counseling has not been a traditional part of veterinary education. For this reason, PPG offers no-cost genetic consultations for veterinarians and veterinary staff to assist their clients with genetic questions. Here we will discuss some of the many factors to be considered when assisting the veterinary team with interpreting genetic test results, assessing disease risk, and making breeding recommendations for the 300+ genetic tests offered at PPG.

Disease Inheritance

Understanding exactly how a specific disease is inherited by offspring can alter your assessment of disease risk and recommendations for breeding. The most common inheritance types discussed in animal genetics are autosomal recessive, autosomal dominant, and X-linked recessive inheritance. However, less common inheritance patterns may also be seen for some animal diseases. Disease risk in animals inheriting one copy of a disease-associated mutation varies based upon the specific mode of inheritance. For example, dogs carrying one ...

As of January 2021, Paw Print Genetics (PPG) is proud to offer 44 new inherited disease tests for the canine health and breeding community. While these new tests are associated with diseases identified in dozens of breeds, the population size of each breed and the relative frequency of these mutations in those populations mean that some of these diseases are much more likely to be seen in clinical veterinary practice than others. Here we will highlight five diseases from the recent PPG test additions that are among those most likely to be diagnosed in the veterinary hospital setting.

Cerebellar Degeneration- Old English Sheepdog and Gordon Setter¹

A genetic mutation in the canine RAB24 gene is associated with a juvenile-onset, autosomal recessive form of cerebellar degeneration (CD) in two seemingly disparate breeds, the Old English Sheepdog (OES) and Gordon Setter (GS). Also referred to as hereditary ataxia or cerebellar abiotrophy (CA), CD presents between 6 months and 4 years of age with progressive neurological dysfunction due to degeneration of cerebellar neurons, especially Purkinje neurons. Coordinated movement becomes progressively more difficult as the disease progresses and can include intention tremors, ataxia, and a stiff, high-stepping gait (hypermetria). Affected dogs are often ...

Paw Print Genetics has launched 44 new inherited disease tests and two new trait tests for various breeds.  With nearly 300 different tests for more than 350 breeds of dog, Paw Print Genetics (PPG) continues to be the leader in providing genetic tests for dogs.  Here are some of the new tests being offered.  You can find these new tests for your breed under the category “Additional Disease Tests” on your breed-specific page on our website.

New Trait Tests

PPG has launched Saddle Tan (A^s locus) and Intensity (I locus) as part of their large number of coat colors and traits offered for various breeds.  Both of these genetic loci modify a dog’s coat color based on their genotypes at other coat color genes. For Saddle Tan, the variation in the RALY gene will modify a dog’s coat presentation only if the dog also has tan points (k^yk^y at the K locus and a^t/a^t or a^t/a at the A locus).  Sometimes called creeping tan, a dog with one or two copies of the A^s variant and tan points may show a ‘shrinking’ dark saddle across ...

If you are like me, 2021 is a welcomed sight. As you all experienced, 2020 was full of challenges related to COVID-19. At Paw Print Genetics, some of us have been working from home since March and really miss being able to get together with our colleagues. The laboratory needed to go to different shifts to allow for social distancing, which really put a strain on our turn-around times. We have experienced delays in getting laboratory reagents that allow us to do our testing, as they are being used by other laboratories for COVID testing, and the US Postal Service has been struggling even before the holidays to deliver our kits and your samples in a timely manner.

Even with these challenges, I have kept track of what I like to call the COVID silver linings. First, in Washington State, veterinary services were deemed essential business so although many restaurants and gyms were forced to close, Paw Print Genetics (PPG) remained open. This meant that we were able to serve our customers and keep our staff employed. Even with social distancing and shift work, we were able to meet our published turnaround times for more than 90% of cases! In ...

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 ...

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 ...

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 ...