Optigen DNA test for Retinal Dysplasia/Dwarfism in the Samoyed

SCARF has received word from Optigen (www.optigen.com), that a test for inherited Retinal Dysplasia (RD)/ OculoSkeletal Dysplasia (OSD, ie., dwarfism) is now available. 

From the Optigen website:  "After extensive research in the laboratories of Drs. Greg Acland and Gus Aguirre, ACVO diplomates and genetic investigators at Cornell University and the University of Pennsylvania, the mutations responsible for OSD in the Labrador retriever and Samoyed have been identified." 

I'd like to add here, that without the bravery shown by a couple of Samoyed breeders over a decade ago, this mutation would not have been found.

What will this DNA test mean to Samoyed Breeders? 

This test will allow breeders to know for certain whether those puppy foldsseen at 8 - 12 weeks are linked to the RD associated with dwarfism.   And even if your dog is shown to be a carrier - breeders can still breed around the situation by breeding to a clear Samoyed and then testing your future offspring with the DNA test.  Within a few generations, all offspring could be clear.

Optigen is working with CERF right now about puppies who show the folds and cannot get a CERF number because Labradors and Samoyeds with folds are not cerf-able per current ACVO guidelines.  It is Optigen's hope that if the dog does not CERF due to folds, but they test clear with this DNA test, that CERF would reissue a clear CERF number for those dogs. 

What is the mode of inheritance?

Unlike the XL-PRA gene in Samoyeds, the gene for RD/OSD is NOT sex linked.

It is an "autosomal dominant with incomplete penetrance".  This means that some carriers will show phenotypical evidence of the disease (like retinal folds) and others will not show folds when they are eye tested (ie., CERF). However, both types of carriers may pass on the defective gene to their offspring.

Are all dogs with folds or Retinal Dysplasia carriers of the gene that causes dwarfism?

No.  But this new DNA test will be able to tell you if they are "normal", "carriers" or "affected" with the gene for RD/OSD.

Note-there are other forms of Retinal Dysplasia/retinal folds which ARE NOT associated with the dwarfism.  This test is ONLY for the RD associated with OSD (dwarfism).  To read about the various types of Retinal Dysplasia:

http://www.samoyedhealthfoundation.org/diseases/retinal-dysplasia-folds

Can Optigen use the sample I previously submitted for the XL-PRA test to test for RD/OSD?

Yes, in some cases that will be possible if enough of the sample is left. Check with Optigen if you have previously submitted samples on your dogs.

Discounted Pricing

To encourage the use of the test, Optigen will be offering the following time limited offers:

"Through September 30, 2008: The RD/OSD test price of $160 will be discounted to $100.  The 5% online discount will also be available.  Reduced "Combo" pricing*** for XL-PRA tests ordered on samples at the same time will also apply.

***Due to unforeseen computer program kinks, combo pricing will not be automatically calculated for online orders.  Please be patient while our site provider works to resolve this issue.  Target date for completion is Aug. 5th.***

Through December 31, 2008: OptiGen will return to the client a coupon for 20% off their next test order provided a recent (within the last 12 months) CERF exam report (either normal or otherwise) is supplied WITH THE SAMPLE. The coupon will be mailed with the OptiGen test report."

More information is available on the Optigen website:

http://www.optigen.com/opt9_rdosd.html