Tag archives: Accurate genetic testing

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 ...

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 ...

Muffin Tin, Muffin Tin, oh where did I put my Muffin Tin?

Muffin Tin, Muffin Tin, oh where did I put my Muffin Tin?
Illustration on how to use a muffin tin to dry your samples. On the left shows how to organize the cups and write important identifiers for each sample. On the right illustrates putting the samples into individual bags after they have dried.

Our Paw Print Genetics (PPG) clients frequently share with us some of the great ideas they utilize to help in their quest to produce happy and healthy litters. Recently, one of our wonderful clients (for this blog, I will call her Carol) gave me an awesome tip regarding her method for drying out umbilical cords, docked tails, or dew claws that she intends to send to PPG as samples for DNA extraction and genetic testing.

Carol’s method involves pulling out her old trusty muffin tin and using the paper liners typically used for baking. Carol prepares one paper liner for each puppy by writing the specific puppy’s name (most commonly corresponding to the puppy’s collar color)  as well as the Paw Print Genetics ID number that is generated on the PPG website when a dog is added to an account.  She then places each liner into one of the metal cups in the muffin tin.

As her veterinarian collects each sample, Carol carefully deposits each sample into the labeled liner corresponding to the correct puppy. To prevent DNA contamination between puppies, she requests that the veterinarian clean the tools and change gloves before collecting the sample on the next pup ...

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 ...

Why is a Dam’s Sample Needed for Parentage Testing?

Why is a Dam’s Sample Needed for Parentage Testing?
Example for marker “A”: Pup is 1,3, Mother is 1,1 and Father is 2,3. The pup inherited allele 1 from the mother and allele 3 from the father.

At Paw Print Genetics, we are often asked this question: “Why do I need to send in a sample on the dam if I just want to know the father of my pups?”. The simple answer is because we need to compare the DNA of the pup to both parents in order to confidently confirm or exclude a potential sire.  Here is an example that helps explain why we need both parents for parentage testing. Keep in mind that a pup receives half of its DNA from its mom and half of its DNA from its dad, so for every marker that we examine, the pup has one allele (gene copy) from mom and one allele (gene copy) from dad.

For parentage (paternity) testing, we use a set of 99 informative markers to confirm or exclude a potential sire. For each marker, we get two results because the pup has two sets of DNA, one from the mom and one from the dad. The two alleles are each assigned a number based on their DNA sequence.  For example, for marker “A”, the pup might be 1,3; one allele has sequence 1 and the other allele has ...

Help! I Bred Two Cream Dogs and Got an All Black Litter!

Help!  I Bred Two Cream Dogs and Got an All Black Litter!

The genetics of coat color inheritance for an individual dog can be confusing, and for some breeds, determining the potential colors of your pups can be even more difficult. For those breeders that are concerned or simply curious about potential coat colors of their future litters, genetic testing of prospective parents can save a lot of time, money and heartache when it comes to predicting colors. 

This color chart attempts to show how the various, known genes interact to produce certain colors. Some genes are dominant over other genes, while some alleles (specific copies of a gene) are dominant over other combinations of alleles at the same gene (or locus) or dominant over other genes in this pathway. By understanding how these genes interact, you will be able to better predict the outcomes in your breeding program.

So how can two light colored parents produce an all black litter? In some breeds, such as the Labrador retriever, it is not possible for two yellow parents to produce black or chocolate pups because the gene that controls whether a dog is yellow or black is the E locus. Yellow Labs are ee and black Labs are either Ee or EE ...

Why Do My Dog’s B Locus Results Say ‘maybe black or brown’?

Why Do My Dog’s B Locus Results Say ‘maybe black or brown’?

Coat color genetics can be very confusing. There are many different genes that can contribute to the overall coat color in a dog and for each gene, there can be different mutations that can contribute to color variations.  The B locus (or gene) is responsible for many of the brown coat colors seen in dogs (also referred to as chocolate or red, depending on the breed).  When performing genetic testing of the B locus, the test result is determined by examining three specific locations within the B gene of a dog, known as the bc, bd, and bs. The overall B locus genotype for a dog is determined by the combination of genotypes (variations) present at the bc, bd, and bs loci (locations within the B gene). 

For most genes in the dog, there are two copies of that gene, one inherited from the mom and one inherited from the dad.  The B locus is no exception in that although both parents have two copies of the B locus, the mom contributes only one copy of the B locus to each of her pups, randomly selected from her two B alleles that she carries ...

Happy Holidays from Paw Print Genetics

Happy Holidays from Paw Print Genetics

I enjoy writing this annual holiday message to thank our customers for their trust and loyal patronage throughout the year.  It also gives me a chance to reflect on the year and once again point out that Paw Print Genetics exists because of you, our customers.  Before we started Paw Print Genetics (PPG), we performed extensive market research and identified many gaps not filled by the available laboratories. Some of the ways in which we have filled these gaps include our online case management system within our website that allows you to have all of your genetic testing records in one place, the largest menu of disease, coat color and trait tests in the industry, and our uncompromised quality, accuracy and service in all that we do.

Filling these gaps has led Paw Print Genetics to become the most trusted laboratory and the leader in canine genetic testing in just a few short years.  This continues to demonstrate to me that people are willing to try something new because they want the best for their breeding program.  Once they have tried PPG, many customers have expressed to me that they have found their “home”; a place where they ...