SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test
Introduction to the Test
The SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test is a critical diagnostic tool used to identify genetic mutations associated with spinocerebellar ataxia type 6. This condition is a hereditary neurodegenerative disorder that affects coordination and balance, leading to significant impairment in daily activities. Early diagnosis through this test can guide treatment options and lifestyle adjustments.
What the Test Measures
This test specifically detects mutations in the CACNA1A gene, which plays a vital role in calcium channel function in the brain. Abnormalities in this gene can lead to various neurological symptoms associated with ataxia.
Who Should Consider This Test?
Individuals experiencing symptoms such as:
- Unexplained loss of coordination
- Difficulty in walking
- Slurred speech
- Muscle weakness
Additionally, those with a family history of ataxia or related neurological disorders should consider undergoing this test. Consulting with a neurologist is recommended to evaluate the necessity of testing based on symptoms and risk factors.
Benefits of Taking the Test
- Early and accurate diagnosis of SCA6.
- Informed decision-making regarding treatment and management options.
- Potential for genetic counseling for family members.
- Improved understanding of the condition and its progression.
Understanding Your Results
Results from the SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test will indicate the presence or absence of mutations in the CACNA1A gene. A positive result confirms the diagnosis, while a negative result may require further investigation depending on clinical symptoms. It is essential to discuss results with a healthcare provider for appropriate interpretation and guidance.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test | 80,000 NGN | 150,000 NGN |
How to Book the Test
To book the SCA6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test, please contact us at +2348077798758 or visit our website. Ensure that you complete the Genomics Clinical Information Requisition Form (Form 20) prior to your appointment.
Test Details
Turnaround Time: Sample Tuesday by 11 am; Report Saturday
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Method: PCR, Fragment Analysis
Specialty: Neurologist
Department: Molecular Diagnostics
Disease Type: Neurologic Disorder – Ataxia
