Wilson's disease

What is Wilson's disease?

Wilson's disease is a rare inherited disease. Wilson's disease is related by changes in copper metabolism: copper is not eliminated properly from the body and instead accumulates in the liver, brain, kidneys, cornea and other organs. possibly to a life-threatening level. As copper accumulates in the body, liver and other organ disorders, neurological and psychological symptoms start to appear, as well as copper deposition around the cornea.
Early detection of Wilson's disease can be successfully treated and many people with the disrder live normal lives.

The most common genetic cause of Wilson's disease is a mutation in the ATP7B gene. The ATP7B gene encodes a protein that is involved in removing copper from the body.

Frequency in Europe:  1:30000
Hereditary type: autosomal recessive

Description of the DNA test

To perform genetic analysis for Wilson's disease detection, the standart sample is saliva on cotton swabs and it can be given remotely. Then DNA is extracted for further testing.
SIA GenEra tests the most common mutation in the gene ATP7B (35 - 45% in Wilson's disease cases).

Interpretation of results:

Wilson's disease is inherited by autosomal recession, which means that both chromosomes must contain a mutation in the ATP7B gene for the disease to manifest. If the mutation is in only one of the chromosomes (one ATP7B gene contains the mutation, the other does not), then the person is the carrier of the mutation and healthy. If both parents are carriers of the mutation, there is a 25% risk of the child getting the mutant ATP7B gene from each parent and developing Wilson's disease.

What if a DNA test confirms a diagnosis of Wilson's disease?

In cases when a tested mutation is detected in a patient, we recommend to consult a doctor - hepatologist or neurologist. The family would also be advised to consult a geneticist to determine the risks of the disease to family members and, if necessary, to determine the status of the mutation carriers.