Ehlers-Danlos syndrome / clEDS (TNXB-related, 2 variants) - Dog

What does this test analyse?

This genetic test analyses two variants in TNXB: c.2012G>A and c.2900G>A. The disorder is described as classic-like Ehlers-Danlos syndrome, clEDS, TNXB-related EDS or an inherited connective-tissue disorder.

TNXB encodes tenascin-X, a protein of the extracellular matrix. This matrix supports skin, tendons, ligaments and blood vessels. When TNXB function is genetically disrupted, this can be associated with hyperelastic and fragile skin, joint hypermobility, bruising, delayed wound healing and abnormal scarring.

Practical value of this test

This combined analysis is useful when Chihuahua, Poodle or related lines need targeted assessment for TNXB-related EDS. Because the trait is interpreted as autosomal recessive, the combined result for both variants matters most. The result helps identify carriers, avoid risk matings and combine breeding animals purposefully without excluding valuable lines unnecessarily.

• c.2012G>A: variant 1 in TNXB.
• c.2900G>A: variant 2 in TNXB.
• G/G, G/A and A/A show per variant whether zero, one or two variant copies are present.