Tag archives: canine inherited disease testing

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 ...

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 ...

Intestinal cobalamin malabsorption, also known as Amnionless Deficiency, Cobalamin Deficiency, Imerslund-Grasbeck Syndrome (IGS), and Vitamin B12 Deficiency, is an inherited disease found in the Australian Shepherd and related breeds (Miniature Australian Shepherd, Toy Australian Shepherd, Miniature American Shepherd). The disease is inherited in a recessive fashion and as such, dogs that inherit two copies of the mutation are at risk for the disease. The disease is caused by the inability to make adequate amounts of a protein that plays a role in absorption of certain nutrients from the intestinal tract and kidneys, including the B vitamin, cobalamin. Affected dogs have increased levels of methylmalonic acid in their urine (a sign of cobalamin deficiency) after weaning, but symptoms of disease may not be recognized by owners for months or years. Symptoms of disease include anorexia, lethargy, poor weight gain, poor muscle mass, and in rare circumstances, a severe neurological dysfunction called hepatic encephalopathy that can lead to altered mental state, seizures, coma and death. Affected dogs require treatment with cobalamin supplementation throughout their life.

Because of the severity of this condition and the fact that it is treatable, this test has been added to the breed-specific panels for Australian Shepherds and related breeds ...

From a thorough mixture of spaniels, pointers, and other setter breeds, the Irish setter made its rise to popular gun dog status in the 18^th century in its native homeland, Ireland. Though originally of the red and white color pattern (now called the Irish red and white setter), by the time the Irish setter made its way to North America, the solid red color most commonly associated with the breed had been established through selective breeding practices. Originally bred for their versatility in hunting game birds, by the mid 1900’s the Irish setter’s role in the field had greatly diminished despite their popularity in the show ring. Controversial, yet successful, efforts were taken to outcross the breed to red and white champion English setters in order to preserve and improve field varieties. The resultant field variety, often referred to as the Red setter, is unique in its hunting abilities and appearance when compared to American show varieties of the Irish setter. However, the field variety still falls under the Irish setter name in the US.

Unfortunately, at some point during the breed’s development, a spontaneous mutation in the ITGB2 gene occurred in a single Irish setter. A portion of ...

Bringing a new puppy into the family is a financial and emotional investment.  Once the kids fall in love with that new puppy, there is no turning back, no matter what might happen.  Whether you are a professional dog breeder or simply a careful buyer, genetic testing can help you understand the potential genetic threats to your dog’s health. It will also inform you of potential inherited diseases that may get passed on if you decide to breed. By testing both the dam and sire, this information will help you select the proper mate to produce the healthiest puppies thereby increasing the value of your breeding program.  If both the dam and sire are clear, all of the puppies will be clear by parentage. Thus, those that are diligent about testing will save money over time. However, every time a new dog is brought into a breeding program, that dog should be screened for all known disease mutations to make sure you are not introducing new mutations into your lines.

Paw Print Genetics was founded by geneticists and veterinarians committed to quality genetic testing and outstanding customer service. Paw Print Genetics offers the largest selection of tests ...

In my last blog, I defined words that described when symptoms may present themselves in a dog affected with a genetic condition.  Today’s topic of discussion is how those symptoms show up (or not show up).  These terms are easily confused with each other.  I’ve even heard some geneticists can get these definitions mixed up.  Let me introduce two terms: Incomplete penetrance and variable expressivity.

Incomplete penetrance is a term that describes symptoms, which may or may not be present in a dog with an at-risk or affected genotype.  The dog has the mutated gene in the right number of copies to cause the disease, but the dog may not show physical symptoms of the disease.  As you can imagine, this can cause some confusion when examining the pedigrees of your dogs and this is when genetic testing becomes an important tool.  If genetic testing is positive, we know the dog has the mutation that causes the disease. Regardless if there are symptoms, this dog can pass this mutation on to its offspring.  Knowing this information may impact breeding practices, as discussed in previous blogs.  The concept of incomplete penetrance is an ...

Paw Print Genetics often gets asked about an optimal time to swab a new litter of puppies. When reviewing these tips, please keep in mind that it can take up to two weeks to obtain results once Paw Print Genetics has received the swabs.  Therefore, allow plenty of time for the laboratory to process your samples before promising a specific date that the puppy can join its new home.

Puppies and dogs can be tested at any age. However, it is a good idea to allow the puppies to stabilize after birth, bond with their mother, and demonstrate that they can feed and grow before testing.  You do not have to wait until the puppies are weaned; once the puppies are stable and thriving, they can be swabbed.  For puppies that are not weaned, the puppies should be separated from their mother for at least two hours prior to swabbing. This is to ensure we get the DNA of the puppy instead of the mom's DNA. During this time, they should have plenty of water and should not be allowed food to avoid contamination of samples. Once the swabbing is completed, the pups can rejoin their ...

After extensive laboratory validation, Paw Print Genetics has launched 29 new breed-specific tests, bringing the total number of tests offered to 115.  This is one of the largest menus offered by any canine genetic testing laboratory in the world.

Among the new tests are diseases that no other laboratory offers in North America are multifocal retinopathy in the American bulldog, myotonia congenita in the Australian cattle dog, neuronal ceroid lipofuscinosis in the Australian shepherd and dachshund, hemophilia B in the beagle, copper storage disease in the Bedlington terrier, complement 3 (C3) deficiency in the Brittany, ichthyosis in the golden retriever, inherited myopathy in great Dane, startle disease in Irish wolfhound, and severe combined immunodeficiency (SCID) in Russell terrier, just to name a few.

Search our website to find more new tests for your favorite breed or the specific diseases that most concern you.

Paw Print Genetics offers three approaches to testing depending on whether you are screening for potential carriers or testing for affected dogs: 

In the first approach, choose only those diseases that concern you; choose one or more tests.

For the second approach, choose the breed-specific panel that has been carefully selected based on the medical ...