Description: TNS is a disease in which the mutation causes impairment of the correct function of a group of white blood cells – neutrophils. Neutrophils, which are an essential part of each individual’s immune system, are involved in eliminating bacterial infections and are a very important part of the acute phase of inflammation. Neutrophils are formed in the bone marrow and gradually mature into the bloodstream. TNS is characterized by a marked reduction in the number of neutrophils in peripheral blood and hyperplasia of myeloid cells in the bone marrow. If neutrophils are absent from the bloodstream and tissues, it is very difficult to prevent any infections. The immune system is slowly failing. As a result of severe neutropenia, the immune deficiency in pups is already at the age of two weeks after birth and the pups die or are euthanased at about 4 months of age. The first symptoms may be apathy, anorexia, diarrhea or poor mobility. The clinical features are often modified by chronic and recurrent infections.
Inheritance: autosomal recessive
Mutation: g.1412654_1412657delGTTT in exon 19 of the VPS13B gene (c.2893_2896del)
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Border Collie