Ehlers-Danlos Syndrome (EDS, TNXB-related) – Dog (2 variants)

Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. Two autosomal recessive mutations are found in the tenascin XB (TNXB) gene, leading to a specific subtype of EDS known as Classical-like Ehlers-Danlos Syndrome (clEDS). The TNXB gene is an important component of the extracellular matrix (ECM). The ECM provides structural support in connective tissues like skin, tendons, ligaments, and blood vessels.
In this combined test type 1 mutation (c.2012) and type 2 mutation (c.2900) are analysed.