DNA Health Testing

 

These are  the main health issues within the breed that we DNA test for. In addition to these we test for other issues to assist us with planning breedings to ensure only healthy puppies are born. 

We can also DNA test for colour profiling.

We routinely do x rays of hips and elbows which are scored by experts and full eye examination from BVA eye vets.

 

MDR1 - This does not affect the health of the dog 

 

In dogs with two copies of the gene MDR1, the blood brain barrier is compromised. This gene encodes a protein, P-glycoprotein, that is responsible for pumping many drugs and other toxins out of the brain. Dogs with the mutant gene can not pump some drugs out of the brain as a normal dog would, which may result in abnormal neurologic signs. It is well known that all sizes of Australian Shepherds and related breeds can have adverse reactions to drugs such as ivermectin, loperamide (Imodium®), and others. DNA testing is now available through various laboratories .

 

Dogs that are affected by MDR1 will have a sensitivity to Ivermenctin and other related drugs.

Dogs that are carriers of MDR1 MAY experience some sensitivity to Ivermectin and other related dogs.

Dogs that test clear for MDR1 should not exhibit any drug sensitivities.

 

Here is a list of Medications that should be avoided if  MDR1 status is not known:

Acepromazine (tranquilizer and pre-anesthetic agent)

Butorphanol (analgesic and pre-anesthetic agent)

Erythromyc

InIvermectin (antiparasitic agent)

Loperamide (ImodiumTM; antidiarrheal agent)

Selamectin, milbemycin, and moxidectin (antaparasitic agents)

Vincristine, Vinblastine, Doxorubicin (chemotherapy agents)

Domperidone

Etoposide

Mitoxantrone

Ondansetron

Paclitaxel

Rifampicin

 

Drugs that are known to be pumped out of the brain by the protein that the MDR1 gene is responsible for producing but appear to be safely tolerated by dogs with the MDR1 mutation:Cyclosporin (immunosuppressive agent)Digoxin (cardiac drug)Doxycycline (antibacterial drug) Drugs that may be pumped out by the protein that the MDR1 is responsible for producing, but appear to be safely tolerated by dogs with the MDR1 mutation:Morphine, buprenorphine, fentanyl (opioid analgesics or pain medications)

 

MDR1 is inherited as a recessive trait .

PRCD PRA

 

The genetic disorder Progressive Rod-cone Degeneration-Progressive Retinal Atrophy, causes cells in the retina at the back of the eye to degenerate and die, even though the cells seem to develop normally early in life. The result is declining vision and eventual blindness. The “rod” cells operate in low light levels and are the first to lose normal function. Night blindness results. Then the “cone” cells gradually lose their normal function in full light situations. Most affected dogs will eventually go blind. It’s important to remember that not all retinal disease is PRA and not all PRA is the prcd form of PRA. DNA testing will make the diagnosis, prior to the onset of disease.

 

IPrcd-PRA is inherited as a recessive trait . This means a disease gene must be inherited from each parent in order to cause disease in an offspring. Parents were either clear, carrier or affected. A carrier has one disease gene and one normal gene, and is termed “heterozygous” for the disease. A normal dog has no disease gene and is termed "homozygous normal" - both copies of the gene are the same. And a dog with two disease genes is termed "homozygous affected" - both copies of the gene are abnormal.

 

HSF4

 

The typical inherited cataract in involves both eyes, and is present on the back side of the lens, these cataracts usually begin in an outer layer of the lens. Cataracts can usually be detected during a CERF eye exam on an adult, but they can appear at any age. The progression of cataracts varies in each dog diagnosed. Some progress very slowly that the dog will retain functional vision, if not full, throughout their lives. While others are so affected that they become blind in a very short period of time. Also some Aussies will develop cataracts in one eye while the other might not show any evidence for months. There is now a DNA test available for the presence of the HSF4 gene. As with prcd-PRA dogs can be clear, carriers or affected. All dogs testing as affected WILL develop cataracts and dogs tested as carriers are 17x more likely to develop cataracts.

 

CEA

 

CEA affected puppies appear normal. The defects are within the eye and cannot be detected without special instruments. Positive diagnosis can only be made by a veterinary ophthalmologist or with the DNA test. The specific defects the examiner will note are choroidal hypoplasia (chorioretinal dysplasia), optic nerve coloboma/staphloma and, rarely, retinal detachment. Both eyes will be affected but the specific defects may differ from eye to eye.

 

Some CEA puppies are masked affecteds. (This was once called "go normal.") They appear normal on exam because normal pigment development in the back of the eye sometimes covers the defective areas preventing observation. Masked affecteds have two copies of the mutation. Any offspring they produce will be carriers. It is important that all puppies be examined no later than 8 weeks of age to get them properly diagnosed.

 

CEA is present at birth and does not progress. CEA puppies behave normally. Few will be so blind that the disease noticeably affects them. CEA does not cause the puppy any pain or discomfort. Affected animals should never be bred; but if they are not blind they can live happy and productive lives.

 

CMR1

 

Canine multifocal retinopathy (CMR) is a hereditary eye disease. CMR disease usually arises before 4th month of age in an affected puppy. Clinically, rose-grey coloured lesions are remarkable in retina. These lesions are of different size and shape and are occured in both eyes of affected individual. Total blindness usually comes in higher age.

 

 CMR1 is inherited as a recessive trait . This means a disease gene must be inherited from each parent in order to cause disease in an offspring. Parents were either clear, carrier or affected. A carrier has one disease gene and one normal gene, and is termed “heterozygous” for the disease. A normal dog has no disease gene and is termed "homozygous normal" - both copies of the gene are the same. And a dog with two disease genes is termed "homozygous affected" - both copies of the gene are abnormal.

 

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