Genetic Testing

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Lets Talk about genetic testing. Why is genetic testing good? It rules out the most common genetically transmitted diseases found in the Australian Shepherd breed. Buying a puppy out of genetically tested parents potentially saves you tons of vetbills and heart ache because your dog cannot get certain diseases that are passed down through generations. 

When I first started looking at purebred Aussies, all of the accronyms were like little codes. N/N means that the dog is negative for the disease and 1) does not have it and 2) cannot carry it or potentially pass it along to its pups. Carrier means that the dog has one copy of the gene, and typically it won't effect the dog except for a couple diseases. 

Collie Eye Anomaly (CEA)

CEA effects the retina, choroid, and sclera of the eye. It can cause mild to severe blindness in dogs that have it. It is a recessive disorder so the dog has to have 2 copies of the gene to be affected.

Cone Degeneration (CD)

CD causes day blindness by degenerating the “cones”in the retina of your dog's eye. The cones in the eye help with the adjustment of the eye to bright lights. If your dog has this it can have a hard time seeing during the day or "dayblindness". The dog must have 2 copies of the gene to be affected. 

Degenerative myelopathy (DM)

DM is a disease of the spinal cord in older dogs. The disease typically onsets in dogs between 8 and 14 years old. It can cause loss of coordination, and make it very hard for your dog to walk. The dog must have 2 copies of the gene to be affected. 

Hereditary Cataracts (Australian Shepherd Type (HC)

Information copied from PAWPRINT GENETICS webpage. (Credit to PAWPRINT GENETICS)

(HC) Cataracts are opacities in the lens of the eye caused by structural changes in lens proteins. A normal lens allows light to pass through it to the Retina in the back of the eye. Light cannot pass through the parts of the lens affected by cataracts and vision becomes blurry. Dogs with Hereditary cataracts (Australian shepherd type) most commonly present between 2 to 7 years of age with small cataracts that are visible on a veterinary eye exam. Dogs that carry ONE copy of the Mutation have an increased risk over the general (normal) population of developing cataracts.

Hyperuricosuria (HUU)

This is as simple as elevated levels of uric acid in the dog's urine. This predisposes your dog to make stones in their bladders or sometimes kidneys that have to be surgically removed. A dog being N/N for this trait does NOT guarantee that your dog will never have this issue, it just means he does not have the genetic trait to be predisposed for them. There are other things that can cause stones such as diet. The dog must have 2 copies of the gene to be affected by this disease. 

Multidrug Resistance 1 (MDR1)

MDR1 is a drug resistance gene. A positive result in the MDR1 trait means that your dog has a sensitivity or allergy to Ivermectin, Loperamide, and a number of other drugs. This sensitivity or allergy can be fatal. To be safe, NEVER treat your dog with ivermectin wormers. Sometimes carriers of this gene can still exhibit traits. My dogs are N/N for this trait but I still treat them with non-ivermectin wormers. New science is showing that MDR1 is a dominant gene, so one copy can affect your dog, and his/her risks are higher with certain drugs. Use medications with caution. 

Multifocal Retinopathy 1 (CMR1)can cause retinal detachment with fluid accumulation under it. It can cause mild to severe blindness in puppies. The dog must have 2 copies of the gene to be affected. 

Neuronal Ceroid Lipofuscinosis (NCLs)

NCLs is a grouped term for 7 different neurologically inherited disorders. Dogs with NCL start out as looking normal and fully functional dogs.  Depending on which subtype of NCL the dogs have,dogs that test posative for the disease group can start developing symptoms anywhere from 6 months to 4-6 years of age depending on what subtype they have of the disease. Progressive loss of mental and physical nervous system functions occur as the disease progresses. This can include disorders such as seisures, and unpredictable behavior.At least 7 forms have been identified thus far in dogs affecting six different genes.   Each is recessively inherited and testing is available for most of these. The dog must have 2 copies of the gene to be affected. 

Progressive Retinal Atrophy (PRA/PRCD)

PRA  is a group of genetic diseases.It is characterized by degeneration of the retina and causes progressive loss of vision and blindness in dogs. The dog must have 2 copies of the gene to be affected.