The Disease
JEB is characterised by blister formation within the lamina lucida of the basement membrane zone. Clinical signs involve skin malformation resulting in blisters. Different areas of the body are affected, particularly the limbs. Affected foals die soon after birth.

The Trait of Inheritance
JEB is an inherited autosomal recessive trait. This means that a horse 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 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 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.