Wilson-Konovalov disease (386, 390, 486)

Wilson’s disease is a genetic disease that occurs as a result of a mutation in the gene that encodes a molecule that helps transport copper. Copper is deposited in various organs, with greater amount in the liver and brain, especially at the level of basal ganglia.

The investigation profile for the Wilson-Konovalov disease comprises 3 types of tests:

-Copper

-Ceruloplasmin

-Copper, urine

Preparation for the investigation: 

1. Blood sample collection can be done between 8:00 AM and 12:00 PM, after a 12-hour fasting period.
2. The day before the investigation, exclude: fatty and fried food, alcohol, smoking, and stress.
3. Inform the doctor about any medications being taken.
4. Performing blood tests on the same day after an X-ray or physiotherapy procedures is not recommended.
5. If monitoring through serial testing, samples should be collected at the same time of day as the previous test

Final interpretation is provided by the attending physician or a specialist, considering the patient's medical history and clinical picture.