SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test
Introduction to the Test
The SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test is a specialized diagnostic test designed to identify mutations in the ATXN7 gene, which are associated with Spinocerebellar Ataxia Type 7. This condition is a hereditary neurodegenerative disorder that affects coordination and balance, leading to progressive disability. Understanding your genetic predisposition can help in proactive health management and treatment planning.
What the Test Measures
This test specifically detects mutations in the ATXN7 gene. These mutations can lead to the development of Spinocerebellar Ataxia, a condition characterized by the degeneration of neurons in the cerebellum, which is responsible for motor control.
Who Should Consider This Test?
Individuals with a family history of Spinocerebellar Ataxia or those exhibiting symptoms such as:
- Unexplained balance issues
- Coordination problems
- Muscle weakness
- Difficulty with speech or swallowing
It is also recommended for those with known risk factors, such as having relatives diagnosed with the condition.
Benefits of Taking the Test
- Identifies genetic mutations that may lead to Spinocerebellar Ataxia.
- Provides valuable information for family planning and risk assessment.
- Guides treatment options and lifestyle modifications.
- Offers peace of mind through understanding your genetic health.
Understanding Your Results
Results will indicate whether a mutation in the ATXN7 gene is present. A positive result may suggest a higher risk of developing Spinocerebellar Ataxia, while a negative result can provide reassurance. It is essential to discuss your results with a healthcare professional for comprehensive interpretation and guidance.
Test Pricing
| Discount Price | Regular Price |
|---|---|
| 80,000 NGN | 150,000 NGN |
Booking the Test
To schedule your SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test, please contact us at +2348077798758. Ensure you bring a duly filled Genomics Clinical Information Requisition Form (Form 20) along with your sample, which should be a minimum of 4 mL of whole blood collected in a Lavender top (EDTA) tube. Remember to ship the sample refrigerated and do not freeze it.
Turnaround Time
Samples must be submitted by Tuesday at 11 AM, with reports available by Saturday.
Conclusion
The SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test is a vital resource for those at risk of genetic neurological disorders. Understanding your genetic health can empower you to make informed decisions about your future.
