Genetic Test
The VPS13B (Vacuolar Protein Sorting 13 Homolog B) gene encodes a transmembrane protein that plays a crucial role in intracellular vesicle-mediated transport and protein sorting.
This protein is essential for the normal development and function of multiple systems, including the eyes, blood cells, and central nervous system.
Mutations in the VPS13B gene have been associated with hereditary neutropenia, a condition characterized by abnormally low levels of neutrophils, which are critical components of the immune system.
This genetic test targets a specific VPS13B mutation linked to hereditary neutropenia.
Disease Description
Hereditary neutropenia is a fatal genetic disorder identified so far only in Border Collies.
Neutrophils are the most abundant type of white blood cells in the immune system and serve as the first line of defense by rapidly destroying invading bacteria.
In this disorder, neutrophils are produced normally in the bone marrow but fail to enter the bloodstream, becoming "trapped" within the bone marrow or other tissues.
As a result, affected puppies have severely compromised immune systems, leading to chronic illness and susceptibility to infections.
Due to the severity of the condition, many affected dogs do not survive beyond one year of age, and euthanasia is often recommended to prevent prolonged suffering.
