Wilson Disease ATP7B Gene Mutation Detection Test
Introduction to the Test
The Wilson Disease ATP7B Gene Mutation Detection Test is a vital diagnostic tool used to identify mutations in the ATP7B gene, which are responsible for Wilson’s disease. This genetic disorder leads to excessive accumulation of copper in the body, causing significant damage to the liver, brain, and other vital organs. Early detection through this test is crucial for effective management and treatment, preventing severe complications.
What the Test Measures
This test specifically detects mutations in the ATP7B gene, which plays a critical role in copper metabolism. By analyzing the genetic material from a blood sample, healthcare providers can determine if a patient is at risk of developing Wilson’s disease or if they are already affected.
Who Should Consider This Test?
This test is recommended for individuals who exhibit symptoms of Wilson’s disease or have a family history of the condition. Common symptoms include:
- Fatigue and weakness
- Jaundice (yellowing of the skin and eyes)
- Abdominal pain and swelling
- Neurological symptoms such as tremors or difficulty speaking
- Psychiatric symptoms including mood swings or depression
Individuals with risk factors, including a family history of Wilson’s disease, should also consider this test for early detection.
Benefits of Taking the Test
Taking the Wilson Disease ATP7B Gene Mutation Detection Test offers several benefits:
- Early diagnosis and intervention can significantly improve health outcomes.
- Informs treatment decisions, including the need for chelation therapy to reduce copper levels.
- Provides peace of mind for patients and families regarding genetic risks.
- Helps in monitoring disease progression and treatment effectiveness.
Understanding Your Results
Results from the Wilson Disease ATP7B Gene Mutation Detection Test will be provided within approximately two months. A positive result indicates the presence of mutations in the ATP7B gene, confirming a diagnosis of Wilson’s disease, while a negative result suggests a lower likelihood of the disorder. It is essential to discuss your results with a healthcare provider for appropriate interpretation and management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Wilson Disease ATP7B Gene Mutation Detection Test | 1,179,360 NGN | 1,310,400 NGN |
Booking the Test
To book the Wilson Disease ATP7B Gene Mutation Detection Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your test and answering any questions you may have.
Pre-Test Instructions
For this test, a sample of 4 mL (2 mL minimum) of whole blood is required, collected in a Lavender Top (EDTA) tube. It is essential to ship the sample refrigerated and not to freeze it. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for processing your test.
Test Turnaround Time
Samples should be submitted daily by 11 am, with results typically available within two months.
For further inquiries or to book your test, please don’t hesitate to reach out to us!
