Wilson’s disease testing and diagnosis in adults

Getting a diagnosis of Wilson’s disease can be a long process. The tests you have will depend on your symptoms.

The symptoms of Wilson’s disease can be very similar to lots of other conditions. So you will also have tests to rule out more common problems.

This page is for adults and older teenagers. Find out about tests for Wilson’s disease in children.

Acute liver failure testing

If you have sudden and very severe liver symptoms (acute liver failure) you might have different tests.

Find out more about Wilson’s disease and acute liver failure.

On this page:

Testing pathways
Liver blood tests
Copper tests
Tests for symptoms
MRI brain scans
Treatment test
Genetic testing
Biopsy

Testing pathways for Wilson's disease in adults

Wilson’s disease is rare. So your first tests will probably be to find out more about your symptoms.

If your doctor thinks you may have Wilson’s disease you might be referred to a specialist centre for more tests. You will have tests with a range of health care specialists including:

a Hepatologist (liver specialist)
a Neurologist (nervous system specialist)
an Ophthalmologist (eye specialist)

Your tests look for:

a build-up of copper in your body
signs of damage in your liver and brain
other symptoms you might not have noticed

Which tests you have first depends on your symptoms. These are examples of the tests you might have. You can find out more about them on this page.

But everyone is different so you might have other tests or have the tests in a slightly different order.

Find out about other tests for liver conditions.

Liver blood tests for Wilson’s disease

Liver blood tests check on your liver and help to rule out other causes.

If you have liver symptoms, these may be the first tests you have.

If you have brain symptoms, you will have these tests to check for liver damage. This helps to diagnose Wilson’s disease and also to find out what treatments you need. It is possible to get normal liver blood test results if your Wilson’s disease symptoms are all linked to your brain.

These tests are also used to help rule out other more common conditions.

You can find out more about liver blood tests using the links below.

Liver blood tests – this is a very common test to check how the liver is doing, you might hear it called a liver function test (LFT).
Full blood count (FBC) – Another common blood test that checks on your immune system and other things in your blood
Full liver screen – A blood test that looks at lots of other things that could be a sign of liver problems

You might also have an ultrasound or other imaging tests to look at your liver.

Find out more about imaging tests.

Copper tests for Wilson’s disease

Tests for copper in your blood and urine can help to diagnose Wilson’s disease

Blood tests for copper

You will have several blood tests. These might be done with the same sample.

A caeruloplasmin test looks at the caeruloplasmin protein in your blood.
- This is the protein that moves copper from the liver to where it is needed.
- People with Wilson’s disease may have less caeruloplasmin in their blood.
A test for free copper or non-caeruloplasmin-bound copper (NCC) looks at how much copper is in your blood and not stuck to caeruloplasmin

Urine test for copper

There is usually very little copper in pee (urine). But if you have Wilson’s disease then some of the copper can come out this way.

You will be asked to collect all your pee for 24 hours. Your hospital will give you instructions and containers. You can ask them if they have a leaflet for online information about what to do.

You might be asked to stop your medicines for 48 hours before this test. This lets doctors find out more about how much “free” copper is in your body. But do not stop your medicines unless your doctor asks you to.

The pee will be sent to a lab to check how much copper is in it.

This is called a 24-hour urinary copper excretion test.

Tests for symptoms of Wilson’s disease

There are lots of different symptoms of Wilson’s disease. Some of them can be hard to spot. They might go unnoticed if you have other, more obvious symptoms as well.

Whatever symptoms you start with, your medical team will want to check for problems with both your liver and your brain. This will help them to diagnose Wilson’s disease. And also to work out the best treatment options for you.

This could include tests for:

Coombs-negative haemolytic anaemia

Some people with Wilson’s disease will have a condition called Coombs negative haemolytic anaemia. This causes red blood cells to be broken down too quickly.

This can be tested for using a blood test.

Find out more about Coombs-negative haemolytic anaemia on the symptoms page.

A copper-coloured ring around the coloured part of the eye called a Kayser-Fleischer ring (KF ring)

KF rings are not harmful. But they can help to confirm the diagnosis of Wilson’s disease. They cannot usually be seen. An eye specialist (ophthalmologist) can look for them. They use a type of eye test called a slit lamp examination.

Find out more about Kayser-Fleischer rings.

Other symptoms caused by copper build up

You may have some mild symptoms that you have not really noticed yet. So doctors will ask you lots of questions to try and find all of these.

MRI brain scans

MRI scans check for brain and liver damage linked to Wilson’s disease.

The MRI scan will look for:

any sign of damage that could be caused by Wilson’s disease
any other conditions that could cause similar symptoms

You might also have an MRI scan on your liver.

Find out more about having an MRI scan

Treatment test for Wilson’s disease

Once your medical team thinks it is quite likely that you have Wilson’s disease, you should start treatment.

You will then be monitored to see if the treatment changes your symptoms or test results.

For example, starting treatment could increase the amount of copper in your pee as the medicine starts to get rid of the extra copper.

Genetic testing for Wilson’s disease

Genetic testing on its own cannot diagnose Wilson’s disease. But it can often confirm the diagnosis if other tests show Wilson’s disease is possible.

You might also hear genetic testing called molecular testing

The genetic test for Wilson’s disease is a blood test. The sample will be sent to a laboratory. They will look for the most common gene changes that we know cause Wilson’s disease.

The results of genetic testing can take several months. You may need to start treatment before you get them.

If tests find 2 variant versions of the Wilson’s gene then you have Wilson’s disease.

If no variants are found, or if only 1 is found, then it is still possible that you have Wilson’s disease. This is because you might have variants that the test cannot find.

In this case, doctors will need to do other tests to work out if you have Wilson’s disease.

Find out more about:

Biopsy

If doctors are still not sure if you have Wilson’s disease, they may suggest a liver biopsy to confirm the diagnosis.

This is a procedure where a small sample is taken from your liver. The sample can be tested in a lab to see how much copper is in it.

You might hear the lab test called “hepatic parenchymal copper quantiﬁcation (dry weight)”.

Find out more about having a liver biopsy

Family testing

Everyone’s experience of Wilson’s disease will be different. Always talk to your specialist medical team for personal advice.

Our information aims to be clear, up-to-date, and useful. We work with people living with liver disease and clinicians to make our information.

How we make our information

Share your thoughts on this information

If you have any feedback or would like a full list of references, you can also let us know by emailing patient-info@britishlivertrust.org.uk.

Clinical reviewer: Dr William Griffiths, consultant hepatologist, Cambridge University Hospitals NHS foundation trust.

Publication date: December 2025

Next review: December 2028