SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test
Introduction to the Test
The SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test is a vital diagnostic tool for identifying genetic mutations associated with spinocerebellar ataxia. This condition is characterized by progressive loss of coordination and balance, and understanding its genetic basis can significantly influence patient management and treatment options.
What the Test Measures
This test specifically detects mutations in the SPTBN2 gene, which are implicated in the development of SCA5. By analyzing the DNA from a blood sample, healthcare providers can determine if a patient carries these mutations.
Who Should Consider This Test
Individuals experiencing symptoms such as:
- Unexplained balance issues
- Coordination difficulties
- Family history of ataxia or similar neurologic disorders
should consider undergoing this test. Additionally, those with risk factors for neurologic disorders may benefit from early genetic screening.
Benefits of Taking the Test
- Provides clarity on genetic predisposition to SCA5.
- Guides treatment and management decisions.
- Offers valuable information for family planning.
- Helps in understanding the progression of symptoms.
Understanding Your Results
Your test results will indicate whether or not mutations in the SPTBN2 gene are present. A positive result may suggest a higher risk for developing SCA5, while a negative result can provide reassurance. It is essential to discuss your results with a healthcare professional for proper interpretation and guidance.
Test Price
| Price Type | Amount (KSh) |
|---|---|
| Discount Price | 15000 |
| Regular Price | 30000 |
Sample Collection Information
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.
Turnaround Time
Sample must be submitted by Tuesday at 11 am, with results available by Saturday.
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, making it easy for you to access our services. To book the SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test, please call or WhatsApp us at +254711564616.
