Symptoms of ATP7B Gene Wilson Disease Genetic Test
Wilson disease is a rare genetic disorder that is characterized by the accumulation of copper in the body’s tissues, leading to liver disease and neurological symptoms. The ATP7B gene is responsible for coding a protein that plays a crucial role in the transport of copper out of the liver and into the bile. Mutations in the ATP7B gene disrupt this process, causing copper to accumulate to toxic levels. Recognizing the symptoms of Wilson disease is essential for early diagnosis and treatment.
The symptoms of Wilson disease can vary widely among affected individuals and typically develop between the ages of 6 and 45. They are often divided into hepatic (liver-related), neurological, or psychiatric categories, depending on the primary areas affected by copper accumulation.
Hepatic Symptoms
- Fatigue and weakness
- Jaundice, or yellowing of the skin and eyes
- Abdominal swelling due to fluid accumulation (ascites)
- Abnormal liver function tests
- Easy bruising and bleeding
Neurological Symptoms
- Tremors or uncontrolled movements
- Difficulty speaking, swallowing, or walking
- Stiffness in the muscles
- Unexplained changes in mood or behavior
- Memory loss or confusion
Psychiatric Symptoms
- Depression
- Anxiety
- Personality changes
- Psychosis
In addition to these symptoms, individuals with Wilson disease may also experience other signs such as kidney problems, heart issues, and hormonal imbalances. It is critical to note that symptoms alone cannot confirm Wilson disease, as they may overlap with various other conditions.
The definitive method for diagnosing Wilson disease is through genetic testing, specifically the ATP7B Gene Wilson Disease Genetic Test. This test looks for mutations in the ATP7B gene that are known to cause the disorder. Genetic testing not only aids in the diagnosis but can also help in family planning and the identification of carriers within the family.
The cost of the ATP7B Gene Wilson Disease Genetic Test is 4400 AED. This test is a valuable investment in one’s health, providing crucial information for the management and treatment of Wilson disease. Early diagnosis and treatment are essential for preventing the progression of the disease and improving the quality of life for those affected.
For more information on the ATP7B Gene Wilson Disease Genetic Test and to schedule your test, please visit https://dnalabsuae.com/tests/atp7b-gene-wilson-disease-genetic-test/.
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