GM1 & GM2 GANGLIOSIDOSIS
How to collect bloodsamples to be tested for GM1 and GM2 Gangliosidosis.
Written by Dr. Henry J. Baker
Thank you for participating in the Korat Gangliosidosis Testing Program sponsored by the Scott-Ritchey Research Center. It is now firmly established that both GM1 and GM2 gangliosidosis mutations occur in the Korat breed. The goal of this project is to test for the identity of carrier cats using the most advanced molecular technology available. The mutation for Korat GM2 has beenknown for some time and we used this information to establish a molecular test. The Korat GM1 disease was described very recently, but we have already characterized this mutation. Therefore, our laboratory is now able to offer tests for both mutations to any Korat breeder or owner who wishes to participate in the program. You should understand that the program is just beginning and as experience is gained we may ask for some additional information or changes in sampling procedures.
Based on the samples tested so far, we believe that the molecular test will provide the most accurate diagnosis of the carrier state available. We include positive and negative samples in every test run and use every caution known to eliminate error. But, because this program is experimental, we can only report the results as we find them and make no guarantee as to the accuracy of the results and accept no responsibility for actions taken by any individual based on the results. We are prepared to answer any questions that you may have about any aspect of the project. If you identify anything about the sample submission process that is unclear or difficult to follow, please let us know as soon a possible so that we can correct these to help others. We prefer that comments or questions be send via email, fax or letter. In urgent situations we will accept telephone calls. Please be assured that test results will be reported only to the individual sending the sample. Any inquiries about test results received from anyone else will be referred to the owner sending the sample. We very much want this program to be successful in assisting Korat breeders eliminate these two serious mutations and will cooperate in any way possible with Korat breeders to achieve this goal. The sample collection and shipping procedures described below should be clear and easy to follow, but if you experience any difficulty, please ask for clarification. At this time we will not charge any fee for testing, but as the program grows and sample volumes increase we may request a modest fee to offset our costs. The Scott-Ritchey Research Center is privately endowed and dedicated to improving the health of dogs and cats through research. If you or your acquaintances wish to support the work of the Center, donations may be made to the Korat Gangliosidosis Testing Program of the Scott-Ritchey Research Center at the address shown below.
Blood samples of approximately 1cc (same as 1ml) should be collected and placed immediately in an EDTA (purple capped) tube provided. It is important that the blood not clot.
Label each tube with the name of the owner, name of the cat and date when the blood is collected.
A short alias can be used to identify cats in lieu of the full pedigree name as long as it is indicated as such on the information sheet described below (suggest full pedigree name followed by AKA and nickname) and as long as there is no chance for confusion with any other cat owned by the same person or cattery. Because the tubes are smaller than the largest tube accommodated, we have wrapped each tube in a pad to prevent excessive movement of the tubes during shipment. Please rewrap each tube when replacing in the shipping container. Return any unused tubes along with the samples. If you need additional tubes, we will send a second shipper upon request.
On the forms provided (photocopy more if needed) give all of the information requested for each of the blood samples included in the shipment and sign the form. This information will be used to complete an official certificate verifying the results of the test. Therefore, certificates cannot be issued unless the information requested is complete and the form is signed for each cat tested.
Include the completed forms with the blood samples or mail separately, indicating that blood samples will follow. If the owner prefers to have preliminary results faxed or emailed, this number and address should be included. Results will only be reported to the owner sending the sample. If possible, provide a pedigree which includes the cats sampled. If a pedigree is not available please provide any information which indicates the relationships of these cats and their parents for as many generations as possible. The test and pedigree information will be kept strictly confidential.
The pedigree information will be extremely valuable in tracking these mutations and estimating the incidence in the Breed, but the actual identity of cats or breeders will not be divulged to anyone.
Wrap each tube in its pad and place them securely in the shipping container provided. It is not necessary for the samples to be refrigerated during shipping. Send the samples as soon as possible after collecting by overnight, 2nd day or priority delivery using the return mailing label provided. If it is not possible to ship the same day as collected, refrigerate the samples and ship the next day. Samples entering the United States from other countries should include specific documents which will prevent delay by United States Department of Agriculture inspectors. These documents are available on request.
Questions should be addressed to Dr. Henry Baker and samples should be sent to:
Dr. Henry J. Baker, Director - Scott-Ritchey Research Center - Auburn University - Auburn, AL 36849
voice: +1 334-844-5951 - fax: +1 334-844-5850 - email: firstname.lastname@example.org
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