The Disease
Mucopolysaccharidosis type VII belongs to a group of rare genetic disorders of glycosaminglycan catabolism resulting in lysosomal storage. Clinical signs are corneal clouding and severe skeletal deformities. Affected dogs are unable to ambulate at several weeks to months of age.

The Trait of Inheritance
Mucopolysaccharidosis type VII is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling 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 not only between affected and clear dogs, but also to identify clinically healthy carriers. 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.