Tag archives: dystrophy

At Neogen/Paw Print Genetics (PPG), we are always exploring the current research to produce new tests for disease-causing mutations.  Every month new discoveries are made and published in the veterinary scientific journals.  On September 28, 2022, we added a host of new tests for disease-causing mutations in many breeds to our menu as we strive to be a convenient source for your genetic testing requirements. Listed here are the 20 new tests PPG is now offering and some of the breeds affected by these mutations.  Some of these new tests are for mutations that are rare, even within the associated breeds of concern.

New tests for the basset hound

We are thrilled to now offer a test for Lafora Disease.  This test for the late onset neurologic condition has been much anticipated for the basset hound, miniature wirehaired dachshund, and other breeds at risk.  Because Lafora Disease presents later in a dog’s life, knowing the status for this mutation and breeding appropriately will lower the frequency of the mutation within a population and reduce the number of at-risk/affected dogs.  The NHLRC1 mutation is a complex test that requires high-quality DNA. Therefore a ...

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 ...