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 specialized genetic test designed to identify mutations in the TBC1D24 gene, which are linked to early infantile epileptic encephalopathy (EIEE). This condition often presents in infants with severe seizures and developmental delays. Understanding the genetic basis of this disorder is crucial for effective diagnosis, treatment planning, and family counseling.
What the Test Measures
This test detects specific genetic mutations in the TBC1D24 gene using next-generation sequencing (NGS) technology. By analyzing the DNA sample, the test can confirm or rule out the presence of genetic variations that may contribute to neurological disorders.
Who Should Consider This Test
This test is recommended for infants who exhibit:
- Early-onset seizures
- Developmental delays
- Unexplained neurological symptoms
Family history of epilepsy or other neurological disorders may also warrant consideration of this test.
Benefits of Taking the Test
- Accurate diagnosis of genetic causes of epilepsy.
- Guidance for treatment options and management strategies.
- Informed family planning through genetic counseling.
- Access to support and resources for affected families.
Understanding Your Results
Results from the TBC1D24 Gene test will provide insight into whether a genetic mutation is present. A positive result may indicate a genetic cause for the infant’s condition, while a negative result can help rule out genetic factors. It is essential to discuss the results with a healthcare professional who can provide context and recommendations based on the findings.
Test Information and Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
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. Prior to testing, a clinical history is necessary, and genetic counseling is recommended to create a pedigree chart of family members affected by TBC1D24-related disorders.
We have branches across Kenya and offer a home sample collection service for your convenience. Book your test today! For more information or to schedule an appointment, please call or WhatsApp us at +254711564616.
