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Copper Toxicosis

Genetic Test

Copper toxicosis is known to be associated with mutations in the COMMD1 and ATP7B genes. Mutations in these genes cause defects in copper metabolism, leading to excessive accumulation of copper in the liver. Copper buildup damages liver cells and induces inflammation.
This genetic test screens for one reported mutation each in the COMMD1 and ATP7B genes. The COMMD1 mutation follows an autosomal recessive inheritance pattern, meaning dogs must inherit two copies of the mutated gene to be considered at risk. The ATP7B mutation exhibits incomplete dominance, so even dogs with one mutated allele may have elevated liver copper levels depending on environmental factors such as diet, and are therefore classified as at risk.

Disease Description

Copper toxicosis is a potentially fatal disease characterized by excessive copper accumulation in the liver, leading to liver damage such as hepatitis and cirrhosis. This disease often shows no clinical signs in its early stages but can progress to a life-threatening condition. For certain breeds with genetic predisposition, such as Bedlington Terriers, early detection through genetic testing is crucial for prevention and management.