TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test
Introduction
The TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the TBC1D24 gene, which are associated with early infantile epileptic encephalopathy (EIEE). This genetic condition can lead to severe neurological disorders in infants, characterized by frequent seizures and developmental delays. Early diagnosis is crucial for managing symptoms and improving the quality of life for affected children.
What the Test Measures
This test utilizes Next Generation Sequencing (NGS) technology to detect specific mutations in the TBC1D24 gene. By analyzing the genetic material, healthcare professionals can determine if a child has a genetic predisposition to EIEE, allowing for timely interventions.
Who Should Consider This Test
Parents and caregivers should consider this test if the infant exhibits:
- Frequent seizures or convulsions
- Developmental delays or regression
- A family history of neurological disorders
Consulting a neurologist is essential for assessing the need for genetic testing based on clinical symptoms and family history.
Benefits of Taking the Test
- Accurate diagnosis of genetic causes of seizures in infants
- Informed treatment options based on genetic findings
- Better management of symptoms and improved patient outcomes
- Guidance for family planning and genetic counseling
Understanding Your Results
Results from the TBC1D24 Gene test will provide insights into whether a genetic mutation is present. A positive result indicates a mutation that may be responsible for the infant’s condition, while a negative result can help rule out genetic causes. It is important to discuss results with a healthcare professional for accurate interpretation and guidance.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 NGN |
| Regular Price | 560,000 NGN |
Book the Test
To ensure the best care for your child, consider booking the TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test today. For more information or to schedule your appointment, please call or WhatsApp us at +2348077798758.
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. Please ensure to provide a clinical history of the patient and attend a genetic counseling session to assist in drawing a pedigree chart of affected family members.
