Tests for Wilson’s disease in children – what to expect

General tests for liver problems

Doctors first check the liver with common tests to rule out other causes.

Younger children with Wilson’s disease often have symptoms caused by liver problems. So doctors will start by checking on your child’s liver and ruling out more common types of liver problem.

Your child might have some general tests for liver disease first. You can use the links below to find out more about these:

• Liver blood tests – this is a very common test to check how the liver is doing
• Full blood count – 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
• An ultrasound or other imaging scan – to take a look at the liver

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Tests for copper

Wilson’s disease is caused by a build-up of copper. To help diagnose the condition doctors will look at how much copper is in your child’s blood and urine.

Blood tests for copper

Your child will have several blood tests. These might be done with the same sample:

• A caeruloplasmin test looks at the caeruloplasmin protein in your child’s blood.
  • This is the protein that moves copper from the liver to where it is needed.
  • Children 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 child’s blood and not stuck to caeruloplasmin

Urine test for copper, 24-hour urinary excretion test

There is usually very little copper in pee (urine). But if your child has Wilson’s disease then some copper can come out this way.

You will be asked to collect all of your child’s pee for 24 hours. This will then be sent to a lab to check how much copper is in it.

Copper challenge test

Another way to test for copper levels uses a medicine called D-penicillamine. You might hear this called penicillamine.

After taking the medicine you will be asked to collect all of your child’s pee for 24 hours. You will be given special bottles to collect it in. The sample will then be sent to a lab to find out how much copper is in it.

Your child cannot have this test if they are allergic to the antibiotic penicillin.

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Tests for symptoms outside the liver (extra-hepatic symptoms)

Children should have tests for symptoms of Wilson’s disease that are not caused by their liver. These are called extra-hepatic symptoms.

Often these are not very obvious so you might not know they are there. Doctors will look for them to:

• help confirm the diagnosis
• make sure your child gets any treatment or support they need to deal with them

This may include tests for:

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The Leipzig score

This score combines test results to estimate the likelihood of Wilson’s disease.

This puts together the results from copper tests and symptoms tests. Some hospitals us it to work out how likely it is that your child has Wilson’s disease.

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Treatment test

Your child should start treatment as soon as their medical team think Wilson’s disease is likely.

They will be carefully monitored to see if the treatment changes their symptoms or test results.

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

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Genetic testing for Wilson’s disease

Genetic testing on its own cannot diagnose Wilson’s disease. But it can often confirm the diagnosis.

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 who will look for the most common gene variants  that we know cause Wilson’s disease.

Genetic test results can take months, so treatment often starts first. If it seems likely that your child has Wilson’s disease they should not wait for genetic test results before starting treatment.

If changes are found in both copies of your child’s Wilson’s gene, then it is very likely that they have Wilson’s disease.

If no variant genes are found, or if only one variant copy is found, then it is still possible that your child has Wilson’s disease. This is because your child might have variants that the test cannot find.

In this case, doctors will need to do other tests to work out if your child has Wilson’s disease.

Find out more about:

• The Wilson’s gene and how it is passed on
• Inherited conditions

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Biopsy

If doctors are still not sure if your child has Wilson’s disease, they may do a liver biopsy. This measures copper directly and checks for liver damage.

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

Find out more about having a liver biopsy

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Next:

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