SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test
Introduction
The SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test is a cutting-edge diagnostic tool that enables healthcare providers to identify genetic mutations associated with neurological disorders linked to thiamine deficiency. This test utilizes Next Generation Sequencing (NGS) technology, which allows for comprehensive analysis of the SLC19A3 gene, providing vital information for the diagnosis and management of patients who may be affected by this condition.
What the Test Measures
This genetic test specifically measures mutations in the SLC19A3 gene, which plays a crucial role in thiamine transport within the body. By analyzing the genetic makeup, the test can detect any abnormalities that may lead to encephalopathy and other neurological disorders.
Who Should Consider This Test
Patients who exhibit symptoms such as cognitive decline, seizures, or other neurological issues, especially those with a family history of SLC19A3 gene-related disorders, should consider undergoing this test. Risk factors include a known deficiency in thiamine or a history of neurological disorders within the family.
Benefits of Taking the Test
- Accurate diagnosis of SLC19A3 gene mutations.
- Guidance for effective management and treatment options.
- Informed decision-making for families at risk.
- Access to genetic counseling for better understanding and support.
Understanding Your Results
Once the test is completed, results will be interpreted by genetic specialists. A positive result indicates the presence of mutations in the SLC19A3 gene, which may require further medical intervention. A negative result can provide reassurance, but it is essential to discuss results with your healthcare provider for comprehensive understanding and next steps.
Test Pricing
| Test Name | Discount Price (NGN) | Regular Price (NGN) |
|---|---|---|
| SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Information
To book the SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with scheduling your appointment and answering any questions you may have.
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 is required, along with a genetic counseling session to draw a pedigree chart of family members affected by SLC19A3 Gene Encephalopathy Thiamine-Responsive.
For more information, visit our website or call us today to learn more about this important genetic test.
