STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test
Introduction
The STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the STXBP1 gene, which is known to cause early infantile epileptic encephalopathy (EIEE). This condition is characterized by severe seizures and developmental delays in infants. Early diagnosis is crucial for managing symptoms and improving quality of life.
What the Test Measures
This genetic test detects specific mutations in the STXBP1 gene using Next Generation Sequencing (NGS) technology. By analyzing the DNA, we can determine if a child has inherited a mutation that may lead to neurological disorders.
Who Should Consider This Test
Parents should consider this test if their child exhibits symptoms such as:
- Frequent seizures
- Severe developmental delays
- Unexplained neurological symptoms
Additionally, a family history of neurological disorders may also indicate the need for testing.
Benefits of Taking the Test
- Identifies genetic mutations that may be causing symptoms.
- Helps in formulating a targeted treatment plan.
- Provides valuable information for family planning and genetic counseling.
Understanding Your Results
Results will be interpreted by a qualified genetic counselor or neurologist. They will provide insights into the implications of any detected mutations and discuss potential next steps for management and care.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Booking the Test
To book the STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Our team is ready to assist you in understanding your genetic health.
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 undergoing this test is required. A genetic counseling session to draw a pedigree chart of family members affected with STXBP1 Gene Early Infantile Epileptic Encephalopathy Type 4 is recommended.
Specialty: Neurology | Department: Genetics | Method: NGS Technology | Disease Type: Neurological Disorders
