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The Rcd4 mutation responsible for late onset PRA was discovered by researchers at the Animal Health Trust (AHT) in the UK studying Gordon Setters. Their research found that dogs with 2 copies of this mutation have a high incidence of loss of vision due to this form of PRA at around 10 years of age. This has been demonstrated in Gordon & Irish Setters. The mutation was also seen in English Setters by screening random samples of DNA banked for other purposes. This mutation has not yet been seen in Irish Red & White Setters, but since they share the prcd1 form of PRA with Irish Setters, it is reasonable to suspect that they may have this form of PRA as well.
Random screening of other breeds by the University of Missouri research team found that this mutation is also present in Australian Cattle Dogs, Polish Lowland Sheepdogs, Small Munsterlanders, and Tibetan Terriers. A study of Tibetan Terriers with PRA showed that this mutation is responsible for one form of late onset PRA in this breed as well, with age of onset similar to the Gordon & Irish Setters in the original research. As with Irish Setters, there is more than one form of PRA present in the Tibetan Terriers studied, and the mutations responsible for these other forms of PRA are as yet undiscovered In Tibetan Terriers.
Owners of dogs from these breeds who want to avoid the risk of producing this late-onset form of PRA can use this DNA test to screen their dogs and make appropriate breeding choices.
Thanks to an agreement with the AHT, testing for this mutation has been made available to residents of North America and others through the OFA/University of Missouri DNA testing partnership. Orders are placed through the OFA Website, DNA samples will be collected via FTA cards sent in a kit following the order, the Small Animal Molecular Genetics Lab at the University of Missouri will run the test, and the OFA will report the results. Inclusion of the results in the OFA database is included with the order.
The rcd4 PRA DNA test can be ordered for the following breeds:
Tests are ordered online through the secure area of the OFA website. Payment is accepted online by credit card (MasterCard and VISA). The OFA administers all order handling. Upon receipt of an order, the OFA will send out the test kit which will include an FTA card for DNA sample collection, along with sample collection instructions. Using the FTA card technology, owners can safely collect DNA samples at home. The collection process is non-invasive, and no veterinary appointment is necessary.
Samples are then sent to the University of Missouri College of Veterinary Medicine where the samples will be processed by the Small Animal Molecular Genetics Lab. Results will be forwarded to the OFA, and the OFA will issue the resulting report to the owner.
The fee for each test is $65 and includes the test kit, laboratory processing, and subsequent registration in the OFA databases.