TBC1D24 Gene Familial Infantile Myoclonic Epilepsy NGS Genetic DNA Test
Understanding TBC1D24 Gene Familial Infantile Myoclonic Epilepsy
TBC1D24 Gene Familial Infantile Myoclonic Epilepsy represents a rare genetic neurological disorder characterized by early-onset seizures that typically begin in infancy. This condition is caused by mutations in the TBC1D24 gene, which plays a crucial role in neuronal development and function. The TBC1D24 protein is involved in vesicle trafficking and synaptic transmission processes essential for proper brain function.
Familial infantile myoclonic epilepsy manifests as recurrent myoclonic seizures – sudden, brief muscle jerks that can affect various parts of the body. These seizures often appear within the first year of life and may progress to more severe seizure types if left undiagnosed and untreated. Early genetic identification through our advanced NGS testing provides the foundation for targeted therapeutic interventions and improved long-term outcomes.
What This Test Detects and Measures
Our comprehensive TBC1D24 genetic analysis utilizes state-of-the-art Next-Generation Sequencing technology to examine the entire coding region of the TBC1D24 gene. The test specifically identifies:
- Pathogenic variants and mutations in the TBC1D24 gene
- Single nucleotide polymorphisms associated with familial infantile myoclonic epilepsy
- Insertions, deletions, and copy number variations affecting gene function
- Novel genetic variants that may contribute to seizure susceptibility
- Inheritance patterns through family genetic analysis
The test provides comprehensive coverage of all exons and flanking intronic regions, ensuring maximum detection sensitivity for clinically relevant variants. Our advanced bioinformatics pipeline analyzes sequencing data to deliver clinically actionable results with high accuracy and reliability.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with the following symptoms or family history:
- Infants experiencing myoclonic seizures within the first year of life
- Children with unexplained developmental delays alongside seizure activity
- Patients with family history of infantile epilepsy or seizure disorders
- Individuals with suspected genetic epilepsy syndromes
- Patients with treatment-resistant seizure conditions
- Families planning pregnancy with history of neurological disorders
Key Clinical Presentations Include:
- Sudden, brief muscle jerks (myoclonus) affecting arms, legs, or face
- Clusters of seizure activity, particularly upon waking
- Developmental regression or plateau following seizure onset
- Abnormal EEG patterns consistent with myoclonic epilepsy
- Family history of similar neurological conditions
Benefits of TBC1D24 Genetic Testing
Undergoing TBC1D24 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of seizure disorders, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely therapeutic interventions for better developmental outcomes
- Reduced Medical Costs: Avoids unnecessary diagnostic procedures and ineffective treatments
- Psychological Relief: Provides answers and reduces anxiety for families seeking explanations
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the TBC1D24 gene. This confirms the genetic diagnosis of familial infantile myoclonic epilepsy. Our genetic counselors will provide detailed explanations about:
- Specific mutation identified and its clinical significance
- Inheritance pattern and recurrence risks
- Recommended management strategies and treatment options
- Family testing recommendations
- Long-term monitoring requirements
Negative Result Interpretation
A negative result suggests that no pathogenic variants were detected in the TBC1D24 gene. However, this does not completely rule out a genetic cause, as other genes or mechanisms may be involved. Further testing or clinical evaluation may be recommended.
Variant of Uncertain Significance
If a genetic change of unknown clinical significance is identified, our team provides guidance on interpretation and may recommend additional family studies or follow-up testing.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | TBC1D24 Gene Familial Infantile Myoclonic Epilepsy NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis and reporting | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | – |
| Methodology | Next-Generation Sequencing (NGS) | – |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for families nationwide.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process completion
- Insurance pre-authorization when applicable
Take Control of Your Neurological Health Today
Don’t let uncertainty about genetic epilepsy conditions affect your family’s future. Our TBC1D24 genetic testing provides the clarity needed for informed medical decisions and personalized care planning. Early genetic diagnosis can significantly impact treatment success and quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our dedicated genetic specialists are available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic health and securing better neurological outcomes for your family. Book your TBC1D24 Gene Familial Infantile Myoclonic Epilepsy NGS Genetic DNA Test now and benefit from our limited-time discounted pricing of only $500 USD.
