How to Test for Wilson's Disease

People with Wilson's Disease are unable to metabolize copper, which builds up in the liver, brain and eyes and causes severe damage. To test for Wilson's Disease, your doctor will order blood and urine analysis, as well as an eye exam. Usually these tests will indicate or rule out whether you have Wilson's Disease, but in some cases, further testing is required. Read on to learn how to test for Wilson's Disease.

Instructions

• 1

  Give a blood sample to determine the level of a protein called ceruloplasmin in your body. This protein is key in helping your body get rid of excess copper, so a low ceruloplasmin level--less than 20 mg. per deciliter--may point to Wilson's Disease. The blood sample will also measure how much copper is in your blood.

• 2

  Collect urine for 24 hours in a sterile container provided by your doctor or the laboratory. A single urine sample is not sufficient to assess how much copper you excrete in a day, so multiple samples are required. The normal range is between 10 and 30 micrograms of copper. With Wilson's Disease, the level will be considerably higher--100 micrograms or more.

• 3

  See your ophthalmologist for a slit-lamp examination. Using a low-power microscope and a high-intensity light, this test examines structures at the front of your eye. To test for Wilson's Disease, your ophthalmologist will look for rusty deposits of copper around the cornea, called a Kayser-Fleischer ring.

• 4

  Evaluate whether liver biopsy is required to test for Wilson's Disease. This procedure involves taking a sample of your liver using a special needle. The biopsy is usually done on an outpatient basis, using only light sedation, and takes about 15 to 20 minutes

• 5

  Talk with symptom-free family members about whether they need to be tested. In families where a specific mutation of a protein is identified, blood samples from the person diagnosed with Wilson's Disease and a symptom-free relative are compared. Called haplotype testing, this identifies a sibling who is symptom-free, but who also has the mutated protein that will ultimately cause copper buildup.