Free Progressive Retinal Atrophy (PRA) Testing for Affected Dogs
GOAL: DEVELOP A DNA TEST TO DETERMINE IF AN FCR IS A CARRIER FOR PRA
Any purebred dog that has been examined by a board certified veterinary ophthalmologist (ACVO, ECVO) and that has been diagnosed with PRA is eligible for review for possible inclusion in the Free Testing program. Status of "PRA suspicious" or "atypical PRA" does not qualify.
Here's how it works:
- You mail, email, or fax a copy of the eye exam report (CERF report or other) plus 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.
- Once you’ve received the PRE-APPROVAL notification from OptiGen, send a blood sample - at least 3 ml of unclotted blood - according to standard instructions (Ship Sample).Cheek swab samples are not suitable for most research purposes; a blood sample is greatly preferred. Print out and complete all details of the standard Request Test form (ignore any payment questions). Send this order form with the notation “Approved for Research” clearly printed on the first page. Including a copy of email correspondence noting the prior approval by OptiGen is helpful.
What happens next?
OptiGen will test the sample from your PRA affected dog for the known and/or likely causes of the disease in that breed. Standard test reports will be issued for those samples that have a known mutation for PRA. For those samples that represent breeds where no PRA mutations have yet been identified, personal communications on test results will be issued from OptiGen as the research is conducted.
Getting help from the FCRSA & Optigen if you have questions
The Optigen staff will be happy to help you with any questions on how to submit these research submissions. The FCRSA Health Committee is working on this project and is also available to answer questions. Sue Pearce-Kelling, Manager at Optigen, has been our most recent contact at Optigen and can be reached at firstname.lastname@example.org. Frances Powrie is our Health Committee liason: email@example.com.
SPECIAL NOTE TO VETERINARY OPHTHALMOLOGISTS
OptiGen greatly values any research input from the diplomats of American and European Colleges of Veterinary Ophthalmologists. We would like to encourage the submission of any samples that you deem affected with the eye diseases described above as well as any other samples that might represent inherited diseases of research interest. Examples of the latter might include: cataracts, choroidal hypoplasia in breeds not previously identified as having Collie Eye Anomaly, optic nerve colobomas, microphthalmia, multi-focal retinopathy in breeds not yet recognized as having CMR mutations, etc. Although we appreciate being contacted prior to submission, prior approval is not required for samples being sent directly from a veterinary ophthalmologist. OptiGen frequently relies on the expertise of two veterinary ophthalmologists, Dr. Gustavo Aguirre at the University of Pennsylvania and Dr. Gregory Acland at Cornell University. With the assistance of their consultations and academic research efforts, OptiGen strives to help advance the understanding of inherited eye diseases in dogs.
Packaging and Shipping Instructions:
Be prepared to ship the sample the same day as it is collected, if at all possible. Normally, it is NOT necessary to ship by an overnight service within the US. US Postal Service 1st Class or Priority Mail is adequate. Other two to three day delivery services are also suitable. However, schedule the shipment so that it will NOT arrive during a weekend or holiday period. The package carriers do not take responsibility for refrigerating blood samples when delivery to the laboratory is delayed or suspended during holiday periods.
Packaging materials must be leak proof and meet the general requirements of the US Postal Service and other carriers. Appropriate packaging requires:
- Blood tube inside a sealed plastic bag (or other sealed container).
- Absorbent material inside the plastic bag. One paper towel is sufficient to soak up any potential leakage. Please do NOT wrap towel around the blood vial.
- Cushioning wrap - bubble wrap sheets are best - wrap around the plastic bag loosely. Please DO NOT tape or staple to the plastic bag. DO NOT use household insulation.
- Warm weather - if the temperature at your location at the time of shipping is 80 degrees F (26.67 C) or above, follow these additional instructions:
- Obtain 2 freezable ice packs, available in hardware, drug and grocery stores.
- Freeze them overnight. DO NOT SUBSTITUTE ICE CUBES, FROZEN FOOD PRODUCTS OR DRY ICE.
- Obtain a Styrofoam box that fits into an outer box and is large enough to hold the frozen ice packs and the sample and toweling in a plastic bag and add cushioning material as needed.
- DO NOT freeze the sample before shipping. It will not freeze when packed as described here.
Put the request form and check in a separate sealed bad to keep them dry.
- Ship the package by overnight delivery service.
- Put in a sturdy container, either box or tube, with enough cushioning inside to prevent movement of the contents. If you use the US Postal Service, you can obtain a free box marked "Priority Mail" at your post office that is ideal for this purpose.
If you use a carrier other than the US Postal Service, please contact them for any special requirements they might have.
Enclose the request form and payment in the container. You will be notified via email when your sample arrives; if you do not use email, please enclose a self-addressed postcard for receipt notification.
SHIP TO OPTIGEN:
Cornell Business & Technology Park
767 Warren Road, Suite 300
Ithaca, NY 14850
Don’t forget to submit a test application form. This 5 page form can be downloaded from www.optigen.com. Go to “Research” and Request Test Form or to “Instructions and Information” and then to “Online Form” or “Print Form”. Ignore any payment questions. Send this form with the notation “Approved for Research” clearly printed on the front page. Including a copy of email correspondence noting the prior approval by Optigen is helpful. Contact the FCRSA Health Committee: Frances Powrie at firstname.lastname@example.org or Sue Pearce-Kelling at Optigen, email@example.com for additional help.