Wilson disease Sequencing

Wilson disease is caused by a buildup of copper in the body. 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, due to a mutation of the ATP7B gene. When the copper storage capacity of the liver is exceeded, copper is released into the bloodstream and travels to other organs—including the brain, kidneys, and eyes.

People who get Wilson disease inherit two abnormal copies of the ATP7B gene, one from each parent. Wilson disease carriers, who have only one copy of the abnormal gene, do not have symptoms. Most people with Wilson disease have no known family history of the disease. A person’s chances of having Wilson disease increase if one or both parents have it. This disease equally affects men and women. Symptoms usually appear between ages 5 to 35, but new cases have been reported in people aged 2 to 72 years.

Wilson disease first attacks the liver, the central nervous system, or both. A buildup of copper in the liver may cause ongoing liver disease. Rarely, acute liver failure occurs; most patients develop signs and symptoms that accompany chronic liver disease.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code: 275.1

Test Requisition: Sequencing Requisition

CPT Codes: 81406 Cost: $1193.00

Turn-around-time: 5-6 weeks