The Paw Print Genetics Blog

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 Veterinarian's Corner: Incorrectly Recorded Canine Parentage and the Effect on Genetic Health

The Veterinarian's Corner: Incorrectly Recorded Canine Parentage and the Effect on Genetic Health

Over the past two decades, usage of genetic testing technologies has revolutionized the world of dog breeding. Once limited to selective breeding practices based upon the characteristics or disease states that could be physically observed in a dog, genetic testing has allowed dog breeders to uncover the inherited genetic variants (mutations) that are not being expressed in an individual but may be expressed in their offspring. By comparing the disease-associated mutations inherited by a dog to those of a prospective mate, informed breeding decisions can be made to avoid producing puppies with these diseases. However, despite the immense value of genetic disease testing in the production of healthy puppies, incorrect assumptions about the parentage of a litter can have disastrous consequences for the health of a kennel, even when parental genetic disease testing results are 100% accurate.

Clear by Parentage/Hereditary Clear

In ideal situations, potential dams and sires are tested for breed-specific, disease-associated genetic mutations prior to being bred. If both parents are found to be free of these mutations (often referred to as being “clear”), it can be assumed for practical purposes that the offspring are also clear of the same mutations. With this understanding, it is common ...

Knowledge is Power in Dog Breeding

Knowledge is Power in Dog Breeding

I was recently contacted by a friend who is looking to buy a new puppy and wanted to make sure that the parents had been tested, and if not, that the prospective puppy had been tested for all of the genetic disease that are found in that breed.  When she asked the breeder if testing had been done, the answer was “no”. When she asked if she could have a sample sent to Paw Print Genetics prior to buying the puppy, the breeder promptly returned her deposit and said that the puppy was no longer available. Although feeling devastated, my friend knew that she was asking the right questions. After all, she is looking for a new family member!

Was the breeder hiding something or just simply afraid of what she might find if she were to do genetic testing?  We won’t know the answer, but I think a lot of what keeps some breeders from testing is fear of the unknown.  What if they find something in their lines?  Will they be stuck with dogs that they can’t sell?  Will others think that they have “bad” dogs?  Actually, doing genetic testing will increase ...

The Veterinarian’s Corner: Variable Disease Presentation and How Genetic Testing Can Help

The Veterinarian’s Corner: Variable Disease Presentation and How Genetic Testing Can Help

Every veterinarian leaves veterinary school with a mental laundry list of animal diseases and their textbook presentations. While this knowledge serves the young graduate well in most circumstances, with clinical experience and mentorship comes the ability for veterinarians to expand their mental notes about the various ways some diseases can present in the real world. For some inherited canine diseases, genetic testing has allowed the practitioner to correlate a broader set of clinical signs for dogs affected by identical underlying genetic mutations. This variability in disease phenotype, known as variable expressivity, is a result of the combined effect of all genetic and environmental factors influencing each individual and can add significant challenge to some diagnoses. However, supplementing a disease workup with genetic test results can prove invaluable in diagnosing inherited diseases that have the frustrating attribute of rarely presenting the same way twice.

Collie Eye Anomaly

Now known to occur in well over a dozen breeds, the recessively inherited collie eye anomaly or CEA (also known as choroidal hypoplasia) is a relatively common eye disease of dogs and a good example of a disorder which can have diagnostic challenges due to its phenotypic variability. CEA is caused by a deletion ...

Fireworks and Fido: How to Make It Through the July 4th Holiday

Fireworks and Fido: How to Make It Through the July 4th Holiday

With the Fourth of July just around the corner, you need to be mindful of how your dog reacts to fireworks and loud noises and take this into consideration when planning Independence Day activities.

For some dogs, fireworks are a non-issue. Hunting dogs and others that are used to loud noises, the thunderous booms that accompany the flash and sparkle of pyrotechnics, can be just another night.

However, for others, the stress experienced by dogs during fireworks often triggers the fight-or-flight response. The loud noises usually make the dog want to leave the situation – animal-control services see a 30-percent increase in lost pets during the time aournd the 4th of July holiday. Although you need to take the appropriate steps to keep your pet safe and secure, so that you don't risk losing your pet as many may run away, the stress also increases the possibility of behavior issues, such a biting, even in a dog that has never shown aggression. 

To keep your dog protected, make sure you provide a safe place for it during the holiday season – their crate is an excellent spot that is very secure both physically and psychologically. Always leash your dog before going ...

The Veterinarian’s Corner: Genetic Heterogeneity and Its Importance in Dog Breeding

The Veterinarian’s Corner: Genetic Heterogeneity and Its Importance in Dog Breeding

The discovery of various disease-associated genetic mutations has greatly changed the way some inherited canine diseases are categorized and perceived by the veterinary community. Through the use of genetic testing developed to identify these discovered mutations, various diseases which were once assumed to have a single underlying molecular cause (due to similarity between disease states) have been found in some cases to actually be caused by many different mutations, often in different genes. This phenomenon, known as genetic heterogeneity, elucidates the way genes work together in pathways and how a disruption in different genes of a pathway may result in similar or nearly identical disease states despite seemingly disparate underlying molecular etiologies. Understanding that there may be one of many different genetic mutations responsible for a dog’s clinical signs can help plot a better course for veterinarians to obtain an accurate, definitive diagnosis and in some cases, may alter treatment strategies.

Pet Owner vs Breeder

The accuracy and specificity of an inherited disease diagnosis are particularly important in the world of dog breeding where every potential health issue must be considered prior to breeding. Unlike general pet owners who may not need to know the specific underlying molecular mechanisms of ...

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 ...

Merle Coat Color- What Veterinarians Should Know

Merle Coat Color- What Veterinarians Should Know

While advancements in science, medicine, and agriculture have played a role in decreasing the relative importance of the dog in human survival, their importance as pets, companions, and surrogate family members may be greater than ever. Once more commonly selected for their athletic prowess and behavioral traits, the rise of dog fancying over the past 250 years has elevated the importance of canine aesthetics to previously unprecedented heights. As a result, dog breeders have historically gone to great lengths to produce dogs with unique phenotypic characteristics desirable to potential pet buyers. While most of these characteristics are simple, mendelian genetic traits without health concerns, some desirable and interesting traits such as the merle coat color pattern are unique to domestic animals and bring with them a complexity and potential health concerns that veterinarians should be aware of in their goal of facilitating canine health and wellbeing. 

An Interesting Mutation for an Interesting Haircoat

In 2006, Dr. Leigh Anne Clark and others identified a semi-dominant genetic mutation responsible for the merle coat color pattern commonly seen in numerous dog breeds including the Australian shepherd, collie, border collie, and dachshund. Merle coat color is marked by areas of normal, eumelanistic pigmentation ...

Happy New Year, from the CEO of Paw Print Genetics

Happy New Year, from the CEO of Paw Print Genetics

As one year closes and we begin a new, I like to take this time to reflect on the accomplishments of Paw Print Genetics (PPG).  It still amazes me that in such a short time (PPG was founded in 2012), we have become the most trusted laboratory in the industry.  Even if we didn’t do the testing, breeders come to us for advice and help in figuring out the sometimes complex nature of genetic testing results.  Perhaps this is because we are so accessible. PPG employs PhD geneticists and licensed veterinarians who are on-staff and in our offices, available by phone for consultation about your breeding program, a particular dog that needs testing, or a specific result.  Providing genetic counseling and a helpful ear is so important for assisting breeders in navigating the ever-changing world of canine genetics.

As in previous years, PPG had many accomplishments this year. Only a few are highlighted in the following paragraphs. For me, our biggest accomplishment is how fast we continue to grow and the number of new breeders who tried us for the first time this past year.  These new customers are finding us mostly from you – our current ...

Canine Genetic Disease Testing Prior to Other Health Clearances- Why It Makes Sense

Canine Genetic Disease Testing Prior to Other Health Clearances- Why It Makes Sense

Once only a dream for dog lovers, technological advances in the sciences have now made testing for certain inherited diseases a mainstay of modern dog breeding. With knowledge of specific, disease-associated genetic mutations and an understanding of how these diseases are inherited, tests can be developed to identify dams and sires at risk of producing affected puppies. With this knowledge, informed decisions can be made in selecting mates which can safely be bred together.

As the Associate Medical Director at Paw Print Genetics, I have heard many different strategies employed by our clients to get required or recommended health clearances performed on their dogs prior to breeding. Some choose to break up the testing over time to spread out the cost and many choose one type of health clearance to be performed first with other testing to be completed upon the results of the first round of testing. For a variety of reasons, I propose that performing genetic testing on breeding dogs prior to other health clearances is a practical option that may be in the best interest for many breeders.

Test at Any Age

One advantage to performing genetic health testing prior to other clearances is that genetic testing ...