SCA Spinocerebellar Ataxia Comprehensive Profile Test
Introduction to the Test
The SCA Spinocerebellar Ataxia Comprehensive Profile Test is a specialized genetic test designed to identify mutations in key genes associated with spinocerebellar ataxia (SCA), a group of inherited disorders characterized by progressive problems with coordination and balance. This test is vital for individuals exhibiting symptoms of ataxia and can guide treatment options and family planning.
What the Test Measures
This test detects mutations in six essential genes: ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, and PPP2R2B. Each of these genes plays a significant role in the development of various types of SCA, and identifying mutations can help in diagnosing the specific type of ataxia affecting the patient.
Who Should Consider This Test?
Individuals who should consider the SCA Spinocerebellar Ataxia Comprehensive Profile Test include:
- Those experiencing symptoms of ataxia, such as unsteady gait, difficulty with fine motor skills, or speech problems.
- Individuals with a family history of ataxia or related neurological disorders.
- Patients under evaluation by a neurologist for unexplained coordination issues.
Benefits of Taking the Test
Taking this test offers several benefits:
- Accurate diagnosis of specific types of spinocerebellar ataxia.
- Informed decision-making regarding treatment options.
- Understanding potential risks for family members.
- Access to genetic counseling and support resources.
Understanding Your Results
Results from the SCA Spinocerebellar Ataxia Comprehensive Profile Test will typically be available within a week. A positive result indicates the presence of a mutation linked to ataxia, while a negative result suggests that the tested genes do not contain mutations associated with the disorder. It is crucial to discuss results with a healthcare provider for proper interpretation and guidance.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| SCA Spinocerebellar Ataxia Comprehensive Profile Test | 280,000 NGN | 360,000 NGN |
Book Your Test Today!
To book the SCA Spinocerebellar Ataxia Comprehensive Profile Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling and any inquiries you may have.
Additional Information
Turnaround Time: Sample must be submitted by Tuesday 11 am; report available by Saturday.
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Method: PCR, Fragment Analysis
Specialty: Neurology
Department: Molecular Diagnostics
Disease Type: Neurologic Disorder – Ataxia
