SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test
Introduction to the Test
The SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test is a specialized genetic test that utilizes Next Generation Sequencing (NGS) technology to analyze the SLC16A2 gene. This test is essential for diagnosing Pelizaeus-Merzbacher disease, a rare neurological disorder characterized by developmental delays and motor dysfunction. Early diagnosis can significantly influence management and treatment options, making this test a vital tool in the field of genetics and neurology.
What the Test Measures
This genetic test detects mutations in the SLC16A2 gene, which plays a crucial role in the proper functioning of the nervous system. By identifying these mutations, healthcare providers can better understand an individual’s risk of developing Pelizaeus-Merzbacher disease.
Who Should Consider This Test
- Individuals with a family history of Pelizaeus-Merzbacher disease.
- Patients exhibiting symptoms such as developmental delays, motor difficulties, or cognitive impairments.
- Those seeking genetic counseling to understand their risk factors and family planning options.
Benefits of Taking the Test
- Provides a definitive diagnosis, allowing for targeted treatment options.
- Enables informed family planning decisions through genetic counseling.
- Helps in understanding the disease mechanism and potential management strategies.
Understanding Your Results
Upon completion of the test, results will be analyzed by a qualified geneticist. A positive result indicates a mutation in the SLC16A2 gene, while a negative result suggests no detectable mutations. It is essential to discuss the results with a healthcare professional to understand their implications fully.
Test Details and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
How to Book the Test
To book the SLC16A2 Gene Pelizaeus-Merzbacher Disease NGS Genetic DNA Test, please contact us at +2348110567037. Our team is ready to assist you with the booking process 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: A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Pelizaeus-Merzbacher disease are required.
