Copper toxicosis / copper storage disease (ATP7A/ATP7B/RETN panel) - Labrador Retriever

What does this test assess?

This DNA panel assesses three variants used together to understand the genetic profile for copper accumulation in the Labrador Retriever: ATP7B c.4358G>A, ATP7A c.980C>T and RETN c.19C>T. The condition is also described as copper toxicosis, copper storage disease, copper-associated hepatopathy, copper-associated chronic hepatitis and, in some contexts, a Wilson-like copper metabolism disorder.

Why do several genes matter?

Copper is needed for normal metabolism, but excessive copper in the liver can damage liver cells. The ATP7B variant increases the risk of hepatic copper accumulation. The ATP7A and RETN variants work differently: in Labrador Retrievers they are interpreted as modifier variants that can influence the copper profile, especially when the ATP7B risk variant is present.

Which signs are associated with copper accumulation?

Dogs may initially appear healthy while copper gradually accumulates in the liver. Possible consequences include increased liver enzymes, reduced appetite, vomiting, lethargy, weight loss, jaundice, chronic hepatitis and severe liver damage. DNA is not the only factor: diet, age, sex, breed background and other genetic factors can influence how strongly the risk is expressed.

Practical value of this test

This panel gives a more useful view than assessing one variant in isolation. For breeders, the result helps plan matings more intelligently, identify dogs with an unfavourable risk profile and correctly include protective or modifier information. For owners and veterinarians, the result adds clear genetic context for liver health, family history or increased liver values.

• ATP7B provides the main risk information for hepatic copper accumulation.
• ATP7A can provide a protective modifier effect in Labrador Retrievers.
• RETN provides additional modifier information that should be interpreted together with ATP7A and ATP7B.