SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test
Introduction
The SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test is a specialized genetic test designed to diagnose GLUT1 deficiency syndrome, a rare neurological disorder caused by mutations in the SLC2A1 gene. This condition affects the transport of glucose across the blood-brain barrier, leading to various neurological symptoms. Early detection through this test is vital for effective management and treatment.
What the Test Measures
This test utilizes Next-Generation Sequencing (NGS) technology to analyze the SLC2A1 gene for mutations that may cause GLUT1 deficiency syndrome. By evaluating the genetic material, healthcare providers can confirm or rule out the diagnosis of this condition.
Who Should Consider This Test?
Individuals who may benefit from the SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test include:
- Patients exhibiting neurological symptoms such as seizures, developmental delays, or movement disorders.
- Individuals with a family history of GLUT1 deficiency syndrome.
- Patients who have undergone preliminary assessments and require further genetic confirmation.
Benefits of Taking the Test
Taking the SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test offers several advantages:
- Accurate diagnosis of GLUT1 deficiency syndrome, enabling timely intervention.
- Informed treatment decisions based on genetic findings.
- Guidance for family planning through genetic counseling.
- Access to specialized care for managing neurological disorders.
Understanding Your Results
Results from the SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test will be interpreted by a qualified geneticist or neurologist. A positive result indicates the presence of mutations in the SLC2A1 gene, confirming the diagnosis of GLUT1 deficiency syndrome. A negative result may rule out this condition but should be discussed with your healthcare provider for comprehensive understanding.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Booking the Test
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and offer home sample collection services for your convenience. To book the SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. Our team is ready to assist you with any queries and ensure a smooth testing process.
Pre-Test Instructions
Prior to undergoing the SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test, it is essential to have a clinical history documented. A genetic counseling session is recommended to create a pedigree chart of family members affected by GLUT1 deficiency syndrome. This information is crucial for accurate interpretation of test results.
Turnaround Time and Sample Type
The expected turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card