Wilson's Disease Screening Test

Updated: Jun 30


Why select Wilson's Disease screening?


• Test analyzes the disease associated gene, ATP7B, and can identify 70% of the disease causing variants.

• With just few droplets of blood, disease causing genetic factors can be analyzed.

• Early treatment and prevention is essential to stop the progression of the disease. So it is important to get all infants tested.

What is Wilson's Disease?

Wilson's disease is one of the most commonly found rare inherited disorder that causes copper to accumulate in the body.

  • Caused by changes/mutations in the ATP7B gene, which plays an important role in the metabolism of copper.

  • Symptoms include Jaundice, hepatitis, problems with speech and physical coordination, hemolytic anemia.

  • Early treatment and management is possible by avoiding foods high is copper such as chocolate, cocoa, mushroom, banana etc. and taking medications that help excretion of copper.

  • If untreated, Wilson's disease can be fatal. Serious complications such as scarring of the liver, liver failure, kidney problems, and hemolysis.

  • Wilson's disease is inherited as an autosomal recessive trait. If both parents are carrier, there is a risk that the child might be affected.


Common Inherited Metabolism Disorder

Wilson's disease is one of the most common inherited metabolic disorder.

The carrier frequency of Wilson's disease is 1 in 90 and the prevalence is approximately one in 30,000.


Abnormal copper metabolism related Complications

Excess copper is accumulated in liver, brain, corneas, kidney and red blood cell, causing complications such as jaundice, hepatic disease, neurological disorders (speech disorder and movement disorder etc), hemolytic anemia and Kayser-Fleischerring.


Early Diagnosis is Crucial

The symptoms of Wilson's disease generally do now show before age of 12. When the symptoms become clear, it is often too late to undo the damage.

In adolescent Wilson's disease, the symptoms usually start showing after the age of 5.


Early diagnosis and treatments (controlling copper intake, taking medications to prevent absorption and help removal of copper) can prevent serious long-term disability and complications.

Key to treatment of Wilson's disease is Timing more than the Medication.

Download the required documents through the link below!

This test can be performed upon request from a medical doctor.


#Wilson's Syndrome screening test#Wilson's Disease#ATP7B#PV#Obstetrics #Neonatal Carrier Screening test


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