The Disease Golden Retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Affected dogs show raised creatine kinase levels, muscle atrophy with contractures, hyaline myofiber degeneration with mineralization, endomysial and perimysial fibrosis with fatty infiltration, and cardiomyopathy. The Trait of Inheritance Golden Retriever muscular dystrophy (GRMD) is transmitted as an X-chromosomal recessive trait. This means that a dog can be genetically clear (also called homozygous normal), heterozygous (carries one copy of the defective gene) or affected (carries two copies of the defective gene) concerning GRMD. Heterozygous male dogs and homozygous female dogs will get symptoms of this disease. Reliable information of dogs that do not carry disease genes (particularly female dogs) is the key to control this disease. The mutation-based gene test and its advantages The genetic defect leading to the disease has been identified. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish between affected and clear dogs. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic. Requirements The tests are performed out of EDTA whole blood (0.5 ml). Testing is performed a few times per week at Laboklin. The results are due about one week after arrival of the sample in our laboratory. |