Tag archives: canine genetic disease testing

Paw Print Genetics Adds New Canine Genetic Disease Tests to Ever-Expanding Offerings

Paw Print Genetics Adds New Canine Genetic Disease Tests to Ever-Expanding Offerings

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 ...

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 ...

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 ...

Paw Print Genetics Leads the Pack for Standards and Guidelines for Canine Clinical Genetic Laboratories

Paw Print Genetics Leads the Pack for Standards and Guidelines for Canine Clinical Genetic Laboratories

When Paw Print Genetics (PPG) started our laboratory in 2012, we entered a rather mature market place with other canine genetic testing laboratories well established, some for over 20 years. However, we were shocked and disappointed to learn that there were no quality standards or guidelines in place for these laboratories to follow. As such, each lab was “doing their own thing” and it was very difficult for the breeder or dog owner to discern which laboratory was providing quality genetic testing that was accurate and could be trusted in their breeding program.

The founders of Paw Print Genetics, Lisa G. Shaffer, PhD, FACMG, CEO, Blake C. Ballif, PhD, Director of Operations, and Kyle Sundin, Senior Manager, Development and Laboratory Operations, worked together prior to starting PPG in a human genetics diagnostic laboratory. Human clinical genetics laboratories follow the Standards and Guidelines set forth by the American College of Medical Genetics and Genomics (ACMGG). Because there were no standards in canine testing and our founders were used to working under the guidance of the ACMGG, we set up our laboratory, protocols, policies and procedures as if PPG was a human genetics diagnostic laboratory. As such, every gene mutation has been ...

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 ...

Paw Print Genetics - Setting the Bar for Standards in Canine Genetic Testing

Paw Print Genetics - Setting the Bar for Standards in Canine Genetic Testing

Paw Print Genetics is special and I am not just saying that because I am the CEO. There is no other canine genetics laboratory like PPG. Seriously!  Paw Print Genetics is the only laboratory that has implemented human-based testing standards. What does this mean?  It means that PPG tests each mutation region twice with two different methods to ensure the highest accuracy possible. No laboratory can boast 100% accuracy, but PPG achieves 99.9% accuracy each and every day. This means that you can trust your results and use them confidently in your breeding program. In addition, PPG employs both PhD Geneticists and licensed Veterinarians on staff, in our offices, that oversee the testing and report the results. You can also call and speak to them if you have any questions or concerns. Finally, I am the only board certified geneticist in the canine field; I am board certified by the American Board of Medical Genetics. These three aspects - the 'double check testing', having geneticists and veterinarians on staff, and having a board certified geneticist on staff - are equivalent to the requirements found in human genetic testing laboratories.

In addition to our high testing standards and customer access ...

Breeding Carriers of Canine Recessive Diseases- Why It Should be Considered

Breeding Carriers of Canine Recessive Diseases- Why It Should be Considered

The breeding of dogs identified as genetic carriers of recessive disease is a hotly debated topic in the canine breeding world with many breeders firmly entrenched in their own personal approach to the issue. With increasing regularity, dog breeders and their clients are bringing genetic questions (including those about breeding carriers) to their veterinarians under the assumption that most veterinarians would be up to speed on the current information and genetic testing available. Unfortunately, at Paw Print Genetics we occasionally speak to breeders whose veterinarians have given them advice about breeding carriers that may not be in the best interest of the kennel or the breed. Given the large number of variables and differences between the way kennels are operated and the recessive disease risks of individual breeds, there is not necessarily a breeding approach that would be appropriate in 100% of cases. However, understanding some guiding principles and the potential ramifications of doing so, can help a veterinarian advise their dog breeding clients in a way that will help them meet their goals without increasing the incidence of recessive diseases in a kennel or in the breed.

What is a “Carrier” of a Recessive disease?

As a quick refresher ...

Can I Order Now and Use the Tests in the Future?

Can I Order Now and Use the Tests in the Future?

Paw Print Genetics offers exceptional discounts and sometimes you want to take advantage of those discounts, but you don't have any dogs to test today.  Keep in mind that your order never expires and remains open until we have received your samples and completed your testing.  Order as many dogs as you want in the same order and send them at your convenience.  We do not hold samples. Rather, we will test them as we receive them, so use some now and some later. The tests will be in your account until you need them. 

Here are some tips on how to order now to take advantage of the sale and use those tests in the future.

1. You must enter a call name, breed, date of birth (month/year) and sex for each dog in an order.  All of this information can be changed when you get ready to use the samples.  Many people call them Dog1, Dog2, etc or Pup1, Pup2, etc.  You can make them all males and put the current month and year as their date of birth. Having them all males with the same birth date helps as a reminder to change this information when ...

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 ...

What You Need to Know Before Breeding or Training Your Australian Cattle Dog

What You Need to Know Before Breeding or Training Your Australian Cattle Dog

Paw Print Genetics is celebrating the Australian Cattle Dog this week. Although generally considered a relatively healthy breed, like other purebred dogs, the Australian Cattle Dog is known to inherit several genetic diseases. Testing your dog prior to breeding prevents the disease through avoidance of producing puppies at-risk. This brief article describes a few of the diseases that can currently be tested for in Australian Cattle Dogs.  You can find a complete list and more information at  https://www.pawprintgenetics.com/products/breeds/91/.  All of these tests performed by Paw Print Genetics are accepted by the Orthopedic Foundation For Animals

Cystinuria is an inherited disease that is known to affect amino acid absorption by the kidneys. This abnormality leads to cysteine crystals and/or stones in the bladder that can block the ureters or urethra and stop the normal flow of urine. If not treated, urinary stones can cause urinary tract infections, kidney failure and even death.

Degenerative Myelopathy (DM) is a late-onset neurological disease found in over 100 breeds of dog.  Known as amyotrophic lateral sclerosis (ALS or Lou Gehrig’s Disease) in humans, affected dogs typically begin to show signs of neurological weakness in ...