Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Normally, copper from the diet is filtered out by the liver and released into bile, which flows out of the body through the gastrointestinal tract. People who have Wilson disease cannot release copper from the liver at a normal rate. When the copper storage capacity of the liver is exceeded, copper is released into the bloodstream and travels to other organs Typically, signs and symptoms of Wilson disease first appear between the ages of 6 and 40, but new cases have been reported in people aged 2 to 72 years.
Liver disease is usually the initial feature of Wilson disease in people between the ages of 6 and 45. Signs and symptoms of liver disease include jaundice, fatigue, loss of appetite, and abdominal swelling. Psychiatric or nervous system problems commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, trembling, difficulty walking, speech problems, deteriorating school work, depression, anxiety, and mood swings. In many individuals with Wilson disease, copper deposits form a green-to-brownish ring, called the Kayser-Fleischer ring, around the cornea. Abnormalities in eye movements, such as the restricted ability to gaze upwards, may also occur.
Mutations in the ATP7B gene cause Wilson disease. The ATP7B gene provides instructions for making a protein that plays a role in the transport of copper from the liver to other parts of the body. This protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.
Methodology: Sequencing of entire coding region
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code E83.01
Test Requisition: Sequencing Requisition
CPT Codes: 81406 Cost: $1100.00
Turn-around-time: 5-6 weeks
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