ALDH7A1 Gene Pyridoxine-Dependent Epilepsy NGS Genetic DNA Test
Introduction
The ALDH7A1 Gene Pyridoxine-Dependent Epilepsy NGS Genetic DNA Test is a cutting-edge diagnostic tool that helps identify genetic mutations associated with pyridoxine-dependent epilepsy, a rare neurological disorder. This test utilizes Next Generation Sequencing (NGS) technology to analyze the ALDH7A1 gene, which plays a vital role in the metabolism of vitamin B6 and its derivatives, essential for normal brain function.
What the Test Measures
This genetic test specifically detects mutations in the ALDH7A1 gene that may contribute to the onset of pyridoxine-dependent epilepsy. By identifying these mutations, healthcare providers can better understand the underlying causes of the condition and tailor treatment plans accordingly.
Who Should Consider This Test?
This test is recommended for individuals who:
- Exhibit symptoms of pyridoxine-dependent epilepsy, such as seizures that are resistant to standard treatments.
- Have a family history of neurological disorders, particularly those related to vitamin B6 metabolism.
- Are seeking a definitive diagnosis to guide treatment options.
Benefits of Taking the Test
- Provides clarity and understanding of the genetic factors contributing to seizures.
- Helps in the development of personalized treatment plans.
- Offers insights for family planning and genetic counseling.
- May enable early intervention, improving patient outcomes.
Understanding Your Results
Once the test is completed, results will be provided to your healthcare provider, who will help interpret the findings. A positive result may indicate a genetic predisposition to pyridoxine-dependent epilepsy, while a negative result may help rule out this condition. It is important to discuss the implications of the results with a healthcare professional.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Booking the Test
To book the ALDH7A1 Gene Pyridoxine-Dependent Epilepsy NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with scheduling and any questions you may have.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: Clinical history of the patient is required, along with a genetic counseling session to draw a pedigree chart of family members affected with ALDH7A1 Gene Pyridoxine-dependent epilepsy.
For more information or to discuss your options, do not hesitate to reach out to our team at DNA Labs Nigeria.
