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Friday, February 11, 2011

Glossary and More: Inherited Diseases of Dogs, from OptiGen

Glossary and More: Inherited Diseases of Dogs, from OptiGen

February 11, 2011

(Note: This is simply a glossary of terms often used by OptiGen to explain many terms used by OptiGen. While it is helpful, it is not, however, all-inclusive. You must actually visit this link -- http://www.optigen.com/opt9_glossary.html -- to read the glossary. Related information below is from parts of the OptiGen website and should prove to be useful in understanding more about inherited diseases of dogs. I was unaware of inherited progressive retinal atrophy, or PRA, in dogs, when Wiggles Blue Heeler and I found each other on September 22, 1998. It was not until six years later, when the diagnosis was made, which explained his huge pupils and bumping into things at night -- which is usually how PRA is first noticed -- that I learned. Had I known, on that beautiful September day in 1998, that my sweet pup would lose his sight halfway through his life, I WOULD STILL HAVE BECOME HIS PERSON. Loss of sight does not change love. For all those puppies yet to be born, and those dear dogs whose physical sight is doomed by their DNA to dim, I pray that testing will become commonplace and that PRA will not mean a possible death sentence at the hands of people who view dogs as working partners -- and who may not have a place for a partner who can no longer work livestock. PRA will put a stock dog in harm's way when it can no longer see the hooves of the animal it's herding. Wiggles Blue Heeler, while carrying the herding instinct strong within him, mostly herded his toys. Thank God he was never in the position to get kicked. The book I am writing -- Wiggles' book -- will hopefully help other precious dogs live the longest and best possible lives!)

Compiled from the OptiGen.com website by Julie Kay Smithson propertyrights@earthlink.net

Glossary from OptiGen: "OptiGen is a service company established to provide DNA based diagnoses and information about inherited diseases of dogs. We promise the highest quality diagnostic and testing services available in the fields of veterinary medical genetics and molecular diagnostics. Our testing procedures are developed by research scientists and veterinarians associated with OptiGen, and are extensively field-tested in cooperation with breeders of dogs."

OptiGen, LLC

Cornell Business & Technology Park

767 Warren Road, Suite 300

Ithaca, New York 14850


Fax: 607-257-0353

http://www.optigen.com and http://www.optigen.com/opt9_freePRAtest.html
genetest@optigen.com or optigen@clarityconnect.com



Canine genetic testing (OptiGen - Test offered):

"The OptiGen tests can be done on very young pups and a special litter rate is available for certain tests. No longer is there a need for test matings combined with expensive and potentially inconclusive ERG testing for PRA. Because carriers and affected dogs having other desirable traits can be bred to normal/clear dogs, the increased value of the genetically tested dog is very high. It's just the beginning... We are committed to an active program of continued research and development of faster, simpler, less-expensive testing procedures for all forms of retinal disease as well as for dozens of other genetic diseases that affect dogs."



Possible results using the OptiGen prcd test:

Genotype / Risk Group / Significance For Breeding / Risk of prcd Disease

Homozygous Normal / Normal/Clear / Can be bred to any dog, extremely low risk of producing affecteds / Extremely low

Heterozygous / Carrier / Should be bred only to Normal/Clear to remove risk of producing
affecteds / Extremely low

Homozygous Mutant / Affected / Should be bred only to Normal/Clear to remove risk of producing affecteds / Very high


OptiGen Tests PRA Affected Dogs at No Cost


It is EXTREMELY important to test as many PRA-affected dogs in each breed as possible. To promote this, OptiGen will test, at no charge, affected dogs from each of the breeds with a known genetic form of PRA. Link to “Tests” - http://www.optigen.com/opt9_test.html

Why is this so important? Because, a genetic test is developed to detect SPECIFIC mutations that are KNOWN TO EXIST in the breed. If a second or a rare variety hasn’t been discovered yet, we can’t test for it.

Here are two examples. Miniature Schnauzers and Miniature/Toy Poodles appear to have at least two genetic types of PRA. Only one type (Type A in MS and prcd-PRA in M/TP) is detectable now. We need to find PRA affected dogs that do NOT test affected with the current test in order to research and discover the other forms of PRA.

The other example was seen with Portuguese Water Dogs. Only after testing over 1600 PWDs did a new allele that causes prcd-PRA come to light. When a PRA-affected dog did not test “Pattern C”, extensive research was done by the Baker Institute and OptiGen to define the mutation associated with PRA in this dog. The result: Discovery of the cause for prcd-PRA in PWDs and improvement of the test.

Who qualifies?

The dog’s sample was not submitted previously either to the Baker Institute (Drs. Acland and Aguirre) or to OptiGen. The dog must have a clinical diagnosis for PRA by a board certified veterinary ophthalmologist (ACVO, ECVO). The diagnosis must be compatible with the form of PRA present in the breed. Status of “PRA-suspicious” or “atypical PRA” or “multi-focal degeneration” does not qualify.

Here’s what you do!

FIRST, mail in a copy of the eye exam report (CERF report or other) and a copy of a 4-5 generation pedigree for pre-approval before sending a blood sample. If possible, provide an email address for a reply.

Wait for a response from OptiGen to learn if your dog has a diagnosis that qualifies for free testing.

NEXT, provide the blood sample - 2 tubes of 3 ml each - according to standard instructions (Ship Sample). http://www.optigen.com/opt9_shipsubpg3pkg.html One blood tube will be saved for research.

Complete all details of the standard Request Test form. http://www.optigen.com/opt9_request.html

Send NO payment.

Send the sample and all paperwork to OptiGen.

You will receive a report from OptiGen 2-3 weeks after the sample is received. A copy can be sent to your veterinary ophthalmologist at your request.


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