Copper toxicosis / Wilson disease risk gene (ATP7B-related) - Dog

What does this test assess?

This genetic test analyses the ATP7B c.4358G>A variant in dog. The disorder and risk profile are described as copper toxicosis, copper storage disease, copper accumulation, copper-associated hepatopathy and copper-associated chronic hepatitis. This test analyses an ATP7B risk variant that can impair copper transport out of the liver. One copy increases risk, while two copies create a clearly higher-risk profile.

What does this condition mean?

Copper is required for normal metabolism, but excess copper in the liver damages liver cells. Dogs with copper toxicosis can appear normal for a long time and later develop increased liver enzymes, poor appetite, vomiting, lethargy, weight loss, jaundice, behavioural change, chronic hepatitis or liver cirrhosis. Diet, other genetic factors and breed background all influence how strongly the genotype is expressed.

Inheritance and result

This ATP7B variant is interpreted as a risk gene: one copy increases the risk of hepatic copper accumulation, while two copies create a clearly higher-risk profile. Other genes and diet remain important modifiers.

• Clear: the tested variant was not detected.
• Carrier/modifier: one copy of the variant was detected and is relevant for breeding or risk assessment.
• Two copies/highest variant dose: the variant is present twice, or for X-linked ATP7A present on the single X chromosome of a male.

Practical value of this test

This DNA test is practically useful because copper accumulation often becomes visible only late. An early genetic result helps breeders avoid risk matings, helps owners understand which dogs deserve extra attention and supports more targeted follow-up when liver values or family history make that relevant.

• Helps plan matings and identify dogs with relevant risk information.
• Enables combined interpretation with other copper metabolism tests.
• Provides concrete information for breed-focused selection and liver-health follow-up.