Wilson's Disease

Wilson’s disease is a genetic copper-metabolism disorder (autosomal recessive) caused by ATP7B variants. When copper isn’t transported properly, it accumulates in the liver, brain, eyes, and other organs, leading to liver disease, neurologic symptoms, and psychiatric changes. Many people have subtle or no symptoms early, so proactive testing can reveal a pattern before organ injury occurs.

A practical approach starts with blood and urine copper studies and a liver panel, then adds ATP7B genetic testing and specialty exams (e.g., ... See more

A practical approach starts with blood and urine copper studies and a liver panel, then adds ATP7B genetic testing and specialty exams (e.g., slit-lamp for Kayser–Fleischer rings) when indicated. Lab results guide next steps, but they do notreplace evaluation by a clinician—ideally one experienced in Wilson’s disease.

Signs, Symptoms & Related Situations

Liver: elevated enzymes, jaundice, abdominal discomfort, enlarged liver/spleen, acute liver failure
Neurologic: tremor, dystonia, slowed or slurred speech, poor coordination, gait changes
Psychiatric/cognitive: mood changes, irritability, depression, anxiety, school or work decline
Eyes: Kayser–Fleischer rings (brown-green corneal deposits found on slit-lamp exam)
Blood: episodes of Coombs-negative hemolytic anemia (fatigue, dark urine, pallor)
Kidney/other: kidney stones, proteinuria, low uric acid, bone or joint pain
Family history: known Wilson’s disease or unexplained early-onset liver/neurologic disease in relatives
Seek urgent care for severe jaundice, confusion, heavy bleeding, or sudden neurologic changes.

Why These Tests Matter

What testing can do

Identify a biochemical pattern consistent with copper overload
Support diagnosis alongside clinical features and specialty exams
Provide baselines to track trends during ongoing care

What testing cannot do

Prove a diagnosis from a single result—no test stands alone
Predict severity based only on genotype or a single copper value
Replace specialty procedures when needed (e.g., slit-lamp exam, liver copper quantification)

What These Tests Measure (at a glance)

Ceruloplasmin (blood): Often low in Wilson’s disease. Caveats: may appear normal in inflammation, pregnancy, or estrogen therapy; can be low in malnutrition or protein-losing states.
Copper, serum (total) ± calculated non-ceruloplasmin copper: Total copper may be low (tracks with ceruloplasmin), while the free (non-ceruloplasmin) fraction can be elevated. Calculation methods vary; interpret with a clinician.
Copper, 24-hour urine: Typically elevated in untreated Wilson’s disease; useful for diagnosis and for monitoringonce under care. Accurate 24-hour collection is essential.
Liver panel: AST/ALT, ALP, bilirubin, albumin, INR—assess liver injury and function; help rule in/out other causes of high copper or ferritin.
ATP7B genetic testing: Detects pathogenic variants (e.g., compound heterozygous or homozygous changes) that support diagnosis and enable family screening.
Specialty tests (ordered by your clinician): Slit-lamp eye exam for Kayser–Fleischer rings; liver copper quantification (biopsy) when noninvasive tests are inconclusive.

Quick Build Guide

Situation	Start with	Add if needed
Unexplained liver disease (any age, especially <40)	Ceruloplasmin • 24-hr urine copper • Liver panel	Serum copper ± calculated free copper • ATP7B genetics
Neurologic/psychiatric features with mild LFT changes	Ceruloplasmin • 24-hr urine copper	ATP7B genetics • Slit-lamp exam (clinic)
Family screening (first-degree relatives)	Ceruloplasmin • 24-hr urine copper	Targeted ATP7B testing (based on proband)
Acute liver failure, hemolysis	Ceruloplasmin • Liver panel • 24-hr urine copper	Urgent specialty evaluation ± liver copper
Monitoring after diagnosis	24-hr urine copper • Liver panel	Serum copper/ceruloplasmin as directed by clinician

How the Testing Process Works

Select the starting set: ceruloplasmin, 24-hour urine copper, and a liver panel.
Collect correctly: follow instructions for a complete 24-hour urine (lab supplies container; record total volume).
Review results: if results suggest Wilson’s disease, your clinician may order ATP7B genetic testing and coordinate slit-lamp or liver copper testing.
Access securely: most results post within a few days.
Plan next steps: discuss with your clinician; set a follow-up cadence for trending copper and liver tests.

Interpreting Results (General Guidance)

Low ceruloplasmin plus elevated urine copper supports the diagnosis—especially with Kayser–Fleischer ringsor compatible symptoms.
Normal ceruloplasmin does not exclude Wilson’s disease; repeat and expand testing when suspicion is high.
Serum total copper can be low because it tracks with ceruloplasmin; free copper may be elevated—use calculated values cautiously.
Genetics: two pathogenic ATP7B variants in trans with a compatible phenotype strongly support diagnosis; a VUSneeds expert review.
Always interpret results with a qualified healthcare professional; specialized centers use scoring systems that combine clinical signs with lab findings.

Choosing Panels vs. Individual Tests

Initial evaluation: Ceruloplasmin + 24-hr urine copper + Liver panel
Higher suspicion / family history: add ATP7B genetic testing and serum copper
Follow-up/monitoring: 24-hr urine copper and liver panel at intervals set by your clinician
When results conflict: repeat key tests and consider specialty exams (slit-lamp, liver copper quantification)

FAQs

Do I need to fast?
Fasting isn’t usually required, but follow your order’s instructions. The 24-hour urine test needs precise collection over a full day.

Can medications or hormones affect results?
Yes. Estrogen (pregnancy, oral contraceptives) and inflammation can raise ceruloplasmin. Tell your clinician about all meds and supplements.

What if my ceruloplasmin is normal?
It doesn’t rule out Wilson’s disease. Your clinician may repeat testing, check urine copper, and consider ATP7B genetics.

Is a liver biopsy always necessary?
No. It’s used when noninvasive tests are inconclusive or for specific clinical questions.

Should my family members be tested?
First-degree relatives of an affected person are often offered iron/copper studies and targeted ATP7B testing after counseling.

Can these tests monitor treatment?
Yes. Urine copper and liver tests help track response and safety under your clinician’s plan.

Related Categories & Key Tests

Genetic Disorder Tests Hub
Hemochromatosis Tests • Liver Panel • Blood Chemistry Tests • General Health Tests • Neurologic Evaluation Support
Key Tests: Ceruloplasmin (blood) • Copper, 24-hour urine • Copper, serum (total ± calculated free) • ATP7B Genetic Testing • Comprehensive Metabolic Panel (liver function) • Coagulation tests (INR) • Slit-lamp exam (clinic) • Liver copper quantification (clinic)

References

AASLD Practice Guidance: Wilson Disease.
EASL Clinical Practice Guidelines: Wilson’s Disease.
GeneReviews: Wilson Disease (ATP7B-Related).
American Academy of Ophthalmology: Kayser–Fleischer ring evaluation.
Consensus statements on acute liver failure and metabolic liver diseases.
Laboratory best practices for copper and ceruloplasmin measurement.

Available Tests & Panels

Your Wilson’s Disease Tests menu is pre-populated in the Ulta Lab Tests system. Start with ceruloplasmin, 24-hour urine copper, and a liver panel; add serum copper and ATP7B genetic testing when indicated. Specialty procedures (slit-lamp exam, liver copper quantification) are coordinated by your clinician. Review all results together to plan next steps and monitoring.

Click on the article below for additional information about Wilson's illness and lab tests.

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Ceruloplasmin Test

The Ceruloplasmin Test measures levels of ceruloplasmin, a copper-carrying protein made in the liver, to evaluate copper metabolism and related disorders. Low levels may indicate Wilson’s disease, Menkes disease, or severe liver disease, while high levels may suggest inflammation or pregnancy. Doctors order this test for patients with liver problems, neurological symptoms, or abnormal copper levels. Results help diagnose metabolic disorders and guide treatment.

Specimen Type: Serum

Collection: Phlebotomist

Also Known As: Copper Oxide Test, Wilson’s Disease Test

$90.07
$35.95
Save: 60.09%
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Copper Micronutrient Plasma Test

The Copper Micronutrient Plasma Test measures copper levels in the blood to evaluate nutritional status and detect deficiencies or excess. Copper is essential for red blood cell formation, connective tissue health, energy production, and nervous and immune system function. This test helps identify imbalances from poor diet, malabsorption, or toxicity, supporting diagnosis and management of overall health.

Patient must be 18 years of age or older.

Specimen Type: Plasma-Unspecified Vial Pour

Collection: Phlebotomist

$48.95
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Copper Test Most Popular

The Copper Test measures copper levels in blood to evaluate nutritional status, liver function, and metabolic health. Abnormal levels may indicate Wilson’s disease, Menkes disease, liver disorders, or malnutrition. Both deficiency and excess copper can affect nervous system, immune function, and energy metabolism. Doctors use this test to investigate unexplained symptoms, monitor treatment, or assess copper-related disorders, providing key insight into overall health.

Specimen Type: Plasma-Unspecified Vial Pour

Collection: Phlebotomist

Also Known As: Cu Test, Copper Serum Test, Copper Plasma Test

$175.02
$47.95
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Copper 24 Hour Urine Test

The Copper 24 Hour Urine Test evaluates copper elimination in urine across a full day, helping identify metabolic or liver-related disorders. Abnormal levels may signal Wilson’s disease, copper toxicity, or deficiency. By capturing copper output over 24 hours, the test provides insight into copper balance, aiding in the assessment of hepatic function, nutritional status, and the effects of excessive copper exposure.

Specimen Type: Urine

Collection: Phlebotomist

$85.55
$69.95
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Copper Blood Test

The Copper Blood Test measures copper levels in the blood to evaluate nutritional status, metabolic function, and potential toxicity. Abnormal levels may be linked to Wilson’s disease, Menkes disease, liver dysfunction, or excessive exposure. This test helps assess unexplained fatigue, neurological symptoms, or metabolic imbalance, supporting evaluation of trace element health and copper-related disorders.

Specimen Type: Blood

Collection: Phlebotomist

Also Known As: Cu Blood Test, Cu Test, Blood Copper Test, Hepatic Copper Test, Copper Free Test

$193
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Copper RBC Test

The Copper RBC Test measures copper levels inside red blood cells, reflecting long-term copper status and cellular availability. Unlike serum copper, which can fluctuate, RBC copper gives a more accurate picture of tissue stores. Abnormal results may indicate copper deficiency, malnutrition, malabsorption, Wilson’s disease, or excess copper exposure. Doctors use this test to evaluate metabolic health, monitor treatment, and support diagnosis of mineral imbalances.

Specimen Type: Blood

Collection: Phlebotomist

Also Known As: Cu RBC Test, Cu Test, Blood Copper Test, RBC Copper Test, Hepatic Copper Test, Copper Blood Test

$80.95
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Troponin I Test

The Troponin I Test measures levels of cardiac troponin I in blood to help diagnose heart attack, myocardial injury, and acute coronary syndrome. Elevated levels indicate heart muscle damage from blocked arteries, inflammation, or other cardiac stress. Doctors order this test for patients with chest pain, shortness of breath, or suspected heart disease. Results provide critical insight for early detection, treatment decisions, and ongoing heart health monitoring.

Specimen Type: Serum

Collection: Phlebotomist

Also Known As: TnI Test, cTnI Test, Cardiac Troponin Test

$249.00
$89.95
Save: 63.88%
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Zinc, Copper and Ceruloplasmin Panel

Specimen Type: Serum, Plasma-Unspecified Vial Pour

Collection: Phlebotomist

$274.00
$112.95
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All About Wilson's Disease (Excess Copper) and Lab Testing

A Patient's Guide: Wilson's Disease Test, Procedure, Results, and Diagnosis

Wilson's Disease is a rare disorder, only affecting about 30,000 to 40,000 people worldwide. It's understandable to feel alone when you're facing the possibility of a Wilson's Disease diagnosis and a Wilson's Disease Test.

Wilson's Disease is fatal if not treated, but despite the seriousness of its symptoms, it's very treatable and easy to detect with the proper blood test and a little research, so you know what you're facing.

If you're preparing for a Wilson's Disease test, then keep reading this guide. You'll find out everything you need to know about Wilson's Disease and the testing you need to arrive at a diagnosis.

What Is Wilson's Disease?

Wilson's Disease is a rare genetic disorder where your body is unable to filter out excess copper. Copper is essential and plays a massive role in developing healthy bones, nerves, and collagen.

Normally, ... See more

A Patient's Guide: Wilson's Disease Test, Procedure, Results, and Diagnosis

If you're preparing for a Wilson's Disease test, then keep reading this guide. You'll find out everything you need to know about Wilson's Disease and the testing you need to arrive at a diagnosis.

What Is Wilson's Disease?

Wilson's Disease is a rare genetic disorder where your body is unable to filter out excess copper. Copper is essential and plays a massive role in developing healthy bones, nerves, and collagen.

Normally, you absorb copper from your food, and the excess is removed by your liver in the bile it produces. But when you have Wilson's Disease, you can't eliminate the extra copper, and eventually, the copper levels reach a life-threatening level.

Wilson's Disease causes copper to accumulate in mostly your brain and liver, but it can affect any organ.

The good news is that Wilson's Disease is very treatable when diagnosed early, and most people can live full and active lives.

Complications of Wilson's Disease

If Wilson's Disease remains untreated, it is ultimately fatal. You can also see severe complications such as:

Scarring of the liver
Liver cirrhosis
Liver failure
Neurological problems despite treatment
Kidney stones
Kidney failure

People with untreated Wilson's Disease can also have blood problems such as anemia. Psychological issues like depression, personality changes, and irritability are also common.

Causes of Wilson's Disease

Wilson's Disease is a rare and inherited genetic disorder that is usually diagnosed between the ages of 5 and 35. Wilson's Disease is an autosomal recessive trait, meaning you must inherit one copy of this gene from each of your parents.

If you only receive one abnormal gene from your parent, you won't become sick with Wilson's Disease, but you'll carry the gene and be at risk of passing it on to your children.

Risk Factors for Wilson's Disease

If you have parents or siblings with Wilson's Disease, then you're more likely to have it too. If you have Wilson's Disease in your family, it's a good idea to ask your doctor about genetic testing.

Early awareness and diagnosis of Wilson's Disease dramatically increase your chances of treatment being a success.

Signs and Symptoms of Wilson's Disease

Symptoms and signs of Wilson's Disease tend to vary a lot, depending on the affected organs. Unfortunately, the symptoms of Wilson's Disease mimic many other conditions making it difficult to detect signs alone.

Wilson's Disease presents at birth, but there won't be any symptoms until the copper begins to build up in your organs. Symptoms include:

Fatigue
Weakness
Weight loss
Nausea
Vomiting
Loss of appetite
Abdominal pain and bloating
Muscle cramps

If you have copper accumulation in your brain, you'll notice symptoms like

Migraines
Drooling
Insomnia
Difficulties with your memory
Difficulties with speech or vision
Clumsiness when using your hands

Once Wilson's Disease advances more, it causes seizures and muscle spasms, and pain with movement.

If your doctor suspects you have Wilson's Disease, they will also check your eyes for Kayser-Fleisher rings and a sunflower cataract.

These rings are golden brown and caused by deposits of copper. Kayser-Fleisher rings show up in over 95% of people with Wilson's Disease.

Eventually, Wilson's Disease also buildups in other organs, causing more symptoms such as:

Arthritis
Kidney stones
Bluish color to your nails
Early osteoporosis
Low blood pressure
Problems with menstrual cycles

Wilson's Disease Diagnosis

Initially, Wilson's Disease is tricky for doctors to diagnose as the symptoms mimic many other disease conditions like hepatitis C, heavy metal poisoning, or other neurological disorders.

If your doctor is concerned you may have Wilson's Disease, they'll first ask you about your medical history and if your family has a history of Wilson's Disease. Next, they will carefully evaluate your symptoms and look for:

Skin changes
Enlargement of liver
Swollen or tender abdomen
Swollen ankles
Yellow color to your eyes

Then, your doctor will order blood tests, urine tests, and scans to confirm the presence of Wilson's Disease.

Lab Tests for Wilson's Disease

Luckily, you can get Wilson's Disease tests done quickly with Ulta Lab Tests. Ulta Lab Tests offers the blood tests you need to get moving on your diagnosis, treatment, and the rest of your life.

Standard laboratory tests to diagnose and monitor Wilson's Disease include:

Ceruloplasmin is a protein that binds to about 95% of the copper in your blood. Ceruloplasmin levels are usually low with Wilson's Disease. But it's also important to note that people with nervous system symptoms of Wilson's Disease will often have a normal ceruloplasmin level.

Your doctor will also check your blood copper level. People with Wilson's Disease often have high copper levels. Blood copper levels are simple and accurate diagnostic tools for Wilson's Disease.

Liver enzymes are next on the list. The liver enzymes alanine transaminase (ALT) and aspartate transaminase (AST) are often tested to determine if you have any liver damage. Abnormal ALT and AST levels can point towards Wilson's Disease.

Depending on your symptoms, your doctor may want to order a complete liver health profile that can identify Wilson's Disease along with other conditions. Ulta Lab Tests offers comprehensive liver profiles that you can choose from.

You'll also have your red blood cell levels checked to look for any signs of anemia. Your doctor may also order a complete metabolic panel to check your blood sugar levels and how your kidneys are functioning.

Some doctors might also order genetic sequencing to examine the gene for variants and link it to your family members.

Finally, you'll have to do a 24-hour urine copper test. For this test, you'll collect your urine in a container for 24 hours. 24-hour urine copper levels tend to be high in people with Wilson's Disease.

Other Diagnostic Tests

In addition to blood tests, your doctor may order specific imaging tests to evaluate your organs.

An MRI is ordered to check your brain when you have neurological symptoms from Wilson's Disease. Your doctor may also order CT scans to assess the condition of your liver and kidneys.

Liver biopsies are another standard diagnostic test for Wilson's Disease. A liver biopsy will reveal liver damage as well as high levels of copper.

Treatment for Wilson's Disease

The success of Wilson's Disease treatment depends on how far it's progressed once it's finally detected. Treatment usually happens in stages and lasts a lifetime. If you stop taking your medications, copper levels will build back up again.

The first stage of Wilson's Disease treatment involves Chelation therapy. Chelation therapy uses specific medications to prevent heavy metals like copper, lead, mercury, or arsenic from building up in your body and becoming toxic.

The second stage of Wilson's Disease treatment is maintaining normal copper levels once the first stage is complete. You'll usually have to take zinc with your meals. Zinc helps prevent your body from absorbing copper from the foods you eat.

The third stage of treatment begins once your symptoms begin to improve and your copper levels start to stay normal. The third stage lasts the rest of your life and involves taking zinc, avoiding foods and water with high copper levels, and regularly monitoring your copper levels.

Frequently Asked Questions About Wilson's Disease

Chances are, many other people are asking the same questions you may have. Let's get your research started by taking a few FAQS about Wilson's Disease.

How Wilson's Disease got its name? From the man who discovered it, Alexander Kinnear Wilson, who originally described the disease in the early 1900s.

Can people get Wilson's Disease later in life? There are rare cases of people in their 60s diagnosed with late-onset Wilson's Disease.

Which gene causes Wilson's Disease? The gene that causes Wilson's Disease is called the ATP7B gene, and tests are available to detect any mutations to this gene.

Will a copper test tell me I have Wilson's Disease? A serum copper test is a cheap and easy diagnostic tool. But remember, if your doctor tells you that you have high copper levels in your blood, it doesn't automatically mean you have Wilson's Disease.

You'll need further lab tests to confirm as elevated copper levels can occur from pregnancy and certain medications.

Get Tested for Wilson's Disease Test With Ulta Lab Tests

What are you waiting for? If you're showing signs of Wilson's Disease, you need to act fast. If left untreated, your liver and kidney will be damaged, and it will only get worse the more prolonged treatment is delayed.

Ulta Lab Tests offers highly accurate and reliable tests so that you can make informed decisions about your health. Here are a few great things to love about Ulta Lab Tests:

You'll get secure and confidential results
You don't need health insurance
You don't need a physician's referral
You'll get affordable pricing
We offer a 100% satisfaction guarantee

Order your lab tests for Wilson's Disease today, get blood drawn nearby, and your results will be provided to you securely and confidentially online in 24 to 48 hours for most tests.

Take control with Ulta Lab Tests today!

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