Copper Toxicosis (ATP7A, ATP7B and RETN)

The mutations analysed in this test are the mutation for Wilson Disease (ATP7B-related) as well as the two modifiers of copper toxicosis (ATP7A- and RETN-related). Information about individual tests in this package is available in the section ‘Included Tests’ on this page.
Copper levels in the body are regulated by both dietary intake and secretion from specific bodily organs, such as the bile ducts. Multiple genes play crucial roles in maintaining optimal copper levels. A mutation in the ATP7B gene is associated with increased copper accumulation, leading to Wilson Disease. Conversely, mutations in modifier genes ATP7A or RETN appear to confer a protective effect against copper buildup in the liver, formerly known as Menkes Disease. Currently, these modifier genes are only relevant for Labrador Retrievers. However, the ATP7B mutation can cause clinical symptoms in both Labrador Retrievers and Dobermans.