As you are aware, the causative mutation for gPRA in Schapendoes dogs has been found. A direct mutation test has been established, which analyses the mutation directly in the gene which is homozygous in affected Schapendoes dogs.
Since October 1st 2008 the Ruhr-Universität-Bochum in Germany offers the direct gene diagnostics for gPRA. The diagnostic certainty is virtually 100%. For breeding purposes heterozygous individuals (carriers) can be distinguished reliably from normal (homozygous) genotypes and from affected animals (homozygous mutant). Costs entail € 66,- and you will receive payment instructions together with the result of the test.
Under this link [PDF] you will find an (interactive) order form for Molecular Genetic Diagnostics which you can complete on your computer and print.
Present the form to your veterinary and ask him to take either
1. Blood samples
For the best result it is highly recommended to perform the test with blood. For this test 2 blood samples of preferably 5 ml each are necessary; if that is not possible then 2 samples of 4 ml or in the worst case 3 ml each). As the blood samples give more certainty it is recommended to send blood.
or
2. Swab (smear of cheek mucosa with a cotton swab).
Only if it is impossible or too difficult (e.g. with puppies) to send blood, you can ask your veterinary to take from each dog or puppy at least 3 or more swabs. Rub with a clean cotton swab at least 10 times along the inside of each cheek and put each of them separately in a clean and dry tube or zip-lock bag
Furthermore you must provide:
3. One copy of the original pedigree.
4. If available a copy of the most recent ECVO-eye examination.
5. A completed and signed order form for Molecular Genetic Diagnostics
Send all this together with “Priority”-Post to the Ruhr-Universität Bochum in Germany.
Important:
Blood samples and/or swabs should preferably be taken and sent at the beginning of the week so they will reach their destination as fast as possible.
Mark each blood sample and/or swab with the name of the dog.
Already indirectly tested dogs
Because of the distance between diagnostic marker and the identified mutation of about 1.6 Mb there is a small theoretical chance for false negative, respectively, positive results in fact of recombination events. In the Schapendoes breed recombination events have been identified between marker and mutation in ~1% of all analysed dogs whereby only the b allele is concerned. Thus, we recommend to order the direct mutation test for all those Schapendoes dogs which have been diagnosed at least with one b allele by the indirect marker test.
Therefore, it is sufficient for Schapendoes owners with indirectly tested dogs to send the order form for the direct DNA test (Please state the PRASD-number of the indirect test!). The results will be sent back to the denoted address together with an invoice of € 30,-. (The shipping of further blood samples and a copy of the pedigree is not required for Schapendoes dogs, which have already been tested by the indirect marker test.)