Ehlers-Danlos syndrome / cEDS type 1 (COL5A1-related) - Labrador Retriever

What does this test analyse?

This genetic test analyses the COL5A1 c.3038del variant in Labrador Retrievers. The condition is known as classical Ehlers-Danlos syndrome, cEDS, EDS type 1, cutaneous asthenia or an inherited connective-tissue disorder.

COL5A1 encodes a component of type V collagen. Collagen contributes to the strength and elasticity of skin, joints and other connective tissues. A relevant variant can therefore be seen as very stretchy or fragile skin, skin tearing, bruising, abnormal scarring and joint hypermobility.

Practical value of this test

The test helps breeders and owners determine whether a dog carries the tested COL5A1 variant. Because this trait is autosomal dominant, one copy of the variant is already meaningful for genetic status. The result supports breeding selection, helps prevent unnoticed transmission within a line and gives clear context in Labrador Retrievers with fragile skin or unusual joint flexibility.

• N/N: the tested variant was not detected.
• N/del: one copy of the dominant variant is present.
• del/del: two copies of the variant are present; this result requires extra attention in breeding selection.