GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test
Introduction
The GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test is a specialized diagnostic tool designed to identify genetic mutations associated with early infantile epileptic encephalopathy (EIEE). This condition is characterized by severe seizures in infants, leading to significant developmental challenges. Understanding the genetic basis of EIEE is crucial for effective management and treatment.
What the Test Measures
This test detects mutations in the GUF1 gene, which are known to be linked to EIEE. By utilizing Next-Generation Sequencing (NGS) technology, the test provides a comprehensive analysis of the genetic material, allowing for precise identification of pathogenic variants.
Who Should Consider This Test
Parents and caregivers of infants exhibiting the following symptoms should consider this test:
- Recurrent seizures within the first year of life
- Developmental delays or regression
- Abnormal neurological examinations
Additionally, family history of neurological disorders may also warrant testing to assess genetic risks.
Benefits of Taking the Test
Taking the GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of genetic causes of EIEE
- Informed decision-making for treatment options
- Guidance for family planning and genetic counseling
- Potential access to clinical trials for targeted therapies
Understanding Your Results
Results from the GUF1 Gene test will be interpreted by a genetic counselor or neurologist. A positive result may indicate the presence of a pathogenic mutation, guiding further management and treatment strategies. Negative results may provide reassurance but do not rule out all genetic causes of EIEE.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking Your Test
To schedule your GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40 NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you with the booking process and provide any additional information you may need.
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test can be blood, extracted DNA, or one drop of blood on an FTA card.
Pre-test instructions include a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with GUF1 Gene Early Infantile Epileptic Encephalopathy Type 40.
