Understanding Lab Tests for Wilson's Disease
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Wilson's disease is a rare inherited disorder that causes copper to accumulate in vital organs, particularly the liver and brain. Because symptoms can develop gradually and vary widely, specific laboratory tests are essential for accurate diagnosis of this genetic condition.
Top Recommended Test
Ceruloplasmin
This is a key diagnostic test for Wilson's disease. Ceruloplasmin is a protein that carries copper in the blood, and most people with Wilson's disease have significantly lower levels of ceruloplasmin, making this biomarker particularly useful for diagnosing the condition.
2907 reviews
Diagnosing Wilson's Disease
Wilson's disease occurs when the body cannot properly eliminate excess copper, leading to toxic buildup in organs. Early detection through laboratory testing is crucial because the condition is treatable with proper medical management, but can cause serious complications if left undiagnosed.
Other Relevant Tests
Copper, Serum or Plasma
This test measures copper levels directly in the blood. In Wilson's disease, copper builds up in the body due to the genetic inability to properly eliminate it. High levels of copper in the serum or plasma may indicate Wilson's disease and help confirm the diagnosis.
2907 reviews
Copper, Random Urine
This urine test measures how much copper the body is attempting to eliminate. High levels of copper in the urine indicate that the body is unable to process copper properly, which is characteristic of Wilson's disease and provides important diagnostic information.
2907 reviews
Alkaline Phosphatase, Serum
This test can provide supporting diagnostic information for Wilson's disease. The condition often causes low alkaline phosphatase levels due to the copper buildup affecting liver function, making this test useful as part of a comprehensive diagnostic workup.
2907 reviews
Understanding Test Results
Wilson's disease diagnosis typically involves a combination of these tests, as no single test alone can definitively diagnose the condition. Healthcare providers look for patterns such as low ceruloplasmin, elevated copper in urine, and sometimes paradoxically low or normal serum copper levels, along with clinical symptoms.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Wilson's disease requires specialized medical management, and these test results should always be interpreted by a qualified healthcare provider familiar with this rare genetic disorder.
