SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test
Introduction to the Test
The SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test is a vital diagnostic tool for identifying Spinocerebellar Ataxia Type 1, a genetic disorder that affects coordination and balance due to degeneration of the cerebellum. Understanding this condition is crucial for effective management and treatment options.
What the Test Measures
This test specifically detects mutations in the ATXN1 gene, which is responsible for producing a protein that plays a significant role in the nervous system. Abnormalities in this gene can lead to the development of ataxia, characterized by loss of control over bodily movements.
Who Should Consider This Test?
This test is recommended for individuals who exhibit symptoms of ataxia, such as:
- Unsteady gait
- Dizziness
- Difficulty with fine motor skills
- Family history of Spinocerebellar Ataxia
If you have any of these symptoms or risk factors, consulting a neurologist for further evaluation is crucial.
Benefits of Taking the Test
By undergoing the SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test, patients can benefit from:
- Accurate diagnosis of the condition
- Informed family planning and genetic counseling
- Personalized management plans based on genetic findings
- Access to clinical trials and research opportunities
Understanding Your Results
Results from the SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test will indicate whether a mutation is present. A positive result confirms the diagnosis, while a negative result suggests that the ataxia may be due to other causes. It is essential to discuss results with your healthcare provider for comprehensive interpretation and next steps.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test | 5850 KSh | 6500 KSh |
Additional Information
Turnaround time for results is typically 10-12 days. The sample required for this test is 4 mL (2 mL minimum) of whole blood collected in a Lavender top (EDTA) tube. It is crucial to ship the sample refrigerated and not freeze it. Additionally, a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for processing.
Book Your Test Today!
We have branches across all major cities in Kenya, including Nairobi, Mombasa, and Kisumu. For convenience, we also offer home sample collection services. To book the SCA1 Spinocerebellar Ataxia ATXN1 Gene Mutation Test, please call or WhatsApp us at +254711564616.
