TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test

Understanding TBC1D24 Gene Testing

The TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test represents a breakthrough in pediatric neurological diagnostics. This specialized genetic test focuses on identifying mutations in the TBC1D24 gene, which plays a critical role in brain development and neuronal function. Early Infantile Epileptic Encephalopathy Type 16 (EIEE16) is a severe neurological disorder that typically manifests in the first months of life, characterized by difficult-to-control seizures and progressive neurological decline.

Using advanced Next-Generation Sequencing (NGS) technology, this test provides comprehensive analysis of the TBC1D24 gene with unprecedented accuracy. The importance of early diagnosis cannot be overstated, as timely intervention can significantly impact treatment outcomes and quality of life for affected infants. Genetic testing for EIEE16 enables healthcare providers to implement targeted therapeutic strategies and provide families with crucial information about prognosis and recurrence risks.

What the Test Measures and Detects

This sophisticated genetic test specifically targets the TBC1D24 gene, analyzing its complete coding sequence and adjacent regulatory regions to identify:

• Pathogenic mutations associated with Early Infantile Epileptic Encephalopathy Type 16
• Missense, nonsense, and frameshift variants in the TBC1D24 gene
• Copy number variations and structural abnormalities
• Novel genetic variants of uncertain significance requiring further investigation

The TBC1D24 gene encodes a protein involved in vesicle trafficking and synaptic function, and mutations disrupt normal neuronal communication, leading to the severe neurological symptoms characteristic of EIEE16. Our NGS-based approach ensures comprehensive coverage of all exons and critical intronic regions, providing a complete genetic profile for accurate diagnosis.

Who Should Consider This Test

This genetic test is recommended for infants and children presenting with the following symptoms or clinical scenarios:

• Infants with early-onset seizures (typically before 6 months of age)
• Children with treatment-resistant epilepsy unresponsive to conventional medications
• Patients exhibiting developmental regression or stagnation
• Infants with abnormal neurological findings including hypotonia or hypertonia
• Cases with family history of similar neurological disorders
• Unexplained infantile encephalopathy with epileptic features
• Patients with suspected genetic epilepsy syndromes

Benefits of TBC1D24 Genetic Testing

Undergoing the TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 test offers numerous advantages for patients and families:

• Early and Accurate Diagnosis: Provides definitive genetic confirmation of EIEE16, eliminating diagnostic uncertainty
• Personalized Treatment Planning: Enables neurologists to develop targeted therapeutic approaches based on genetic findings
• Genetic Counseling Guidance: Offers families comprehensive information about inheritance patterns and recurrence risks
• Prognostic Information: Helps healthcare providers anticipate disease progression and potential complications
• Family Risk Assessment: Identifies carrier status in parents and enables informed family planning decisions
• Research Contribution: Contributes to the growing understanding of rare neurological genetic disorders

Understanding Your Test Results

Our comprehensive genetic testing provides detailed results that are carefully interpreted by our team of board-certified geneticists and neurologists. Results typically fall into three categories:

Positive Result

A positive result indicates the presence of a pathogenic mutation in the TBC1D24 gene consistent with Early Infantile Epileptic Encephalopathy Type 16. This confirmation enables your healthcare team to implement appropriate management strategies and provides clarity for future medical decisions.

Negative Result

A negative result suggests that no disease-causing mutations were detected in the TBC1D24 gene. However, this does not completely rule out a genetic cause, as mutations in other genes or regulatory regions not covered by this test could be responsible for the clinical presentation.

Variant of Uncertain Significance (VUS)

In some cases, we may identify genetic changes whose clinical significance is currently unknown. These variants require further investigation and may be reclassified as more information becomes available through ongoing research.

Test Pricing and Details

Pre-Test Requirements

To ensure the most accurate and meaningful results, we require:

• Complete clinical history of the patient undergoing testing
• Genetic counseling session to create a detailed pedigree chart of family members affected with similar neurological conditions
• Neurological assessment and documentation of seizure characteristics
• Informed consent from parents or legal guardians

Nationwide Accessibility

We have branches conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and many other cities. Our network of certified genetic counselors and neurological specialists ensures that families receive comprehensive support throughout the testing process.

Take the Next Step Toward Answers

If your child is experiencing symptoms suggestive of Early Infantile Epileptic Encephalopathy Type 16, don’t wait to seek answers. Early genetic testing can provide crucial information for managing this complex neurological condition. Our team of experts is ready to guide you through the testing process and help you understand the results.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the TBC1D24 Gene Early Infantile Epileptic Encephalopathy Type 16 NGS Genetic DNA Test. Take advantage of our special discount price of $500 USD and get the answers your family deserves.