SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test
Introduction to the Test
The SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test is a cutting-edge diagnostic tool that uses Next Generation Sequencing (NGS) technology to identify mutations in the SLC2A1 gene. This gene is responsible for encoding a protein that facilitates glucose transport across the blood-brain barrier. A deficiency in this protein can lead to severe neurological disorders, making timely diagnosis and intervention crucial.
What the Test Measures
This test specifically measures the presence of mutations in the SLC2A1 gene, which can indicate GLUT1 deficiency syndrome type 1. By analyzing the genetic material, healthcare providers can confirm or rule out this condition, allowing for appropriate management and treatment.
Who Should Consider This Test
Individuals who exhibit symptoms such as seizures, developmental delays, or movement disorders should consider undergoing this test. Additionally, those with a family history of GLUT1 deficiency syndrome or related neurological disorders are encouraged to seek testing. Risk factors include:
- Family history of neurological disorders
- Presence of unexplained seizures
- Developmental delays in children
Benefits of Taking the Test
Taking the SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test offers several benefits, including:
- Accurate diagnosis of GLUT1 deficiency syndrome
- Informed treatment decisions based on genetic information
- Potential for early intervention, improving patient outcomes
- Family planning and genetic counseling opportunities
Understanding Your Results
Upon completion of the test, results will be provided in a clear format, detailing whether mutations were detected. It is essential to discuss these results with a healthcare professional who can provide guidance on the implications and next steps. Genetic counseling may also be recommended to help understand the results and their impact on family members.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking Your Test
To ensure timely diagnosis and intervention, it is crucial to book your SLC2A1 Gene GLUT1 Deficiency Syndrome Type 1 NGS Genetic DNA Test today. Contact us via phone or WhatsApp at +2348110567037 to schedule your appointment. Our team is here to assist you with any questions and guide you through the process.
Test Details
- 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, genetic counseling session to draw a pedigree chart of family members affected with SLC2A1 Gene GLUT1 deficiency syndrome type 1.
- Specialty: Neurology
- Department: Genetics
- Method: NGS Technology
- Disease Type: Neurological Disorders
