Genetic Test
The ADAMTS2 (ADAM Metallopeptidase with Thrombospondin Type 1 Motif 2) gene encodes a protein that is part of a protein complex involved in the breakdown of procollagen, a necessary step in the formation of mature, functional collagen fibers.
Proper collagen processing is essential for the structural integrity of connective tissues such as skin, tendons, ligaments, and blood vessels.
Mutations in the ADAMTS2 gene have been associated with Ehlers-Danlos syndrome (EDS), a group of hereditary connective tissue disorders characterized by fragile skin, joint hypermobility, and poor wound healing.
This genetic test targets a specific ADAMTS2 mutation linked to Ehlers-Danlos syndrome.
Disease Description
Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disorder caused by abnormalities in the structure or production of collagen.
Collagen is a key protein that provides strength and elasticity to the skin, joints, and various internal tissues.
In affected animals, the skin is often fragile, thin, and prone to tearing even with minor trauma, and joints may be abnormally loose or unstable, leading tofrequent dislocations and lameness.
Because collagen is also important for the integrity of other tissues, organs such as the eyes, heart, diaphragm, and blood vessels may also be weakened, potentially resulting in secondary cardiovascular or vascular complications.
