GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infantile Epilepsy
The GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics, offering precise identification of genetic mutations responsible for one of the most severe forms of childhood epilepsy. This advanced genetic analysis provides critical information for families and healthcare providers managing complex neurological conditions in infants.
What is GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19?
Early Infantile Epileptic Encephalopathy Type 19 (EIEE19) is a rare, severe neurological disorder caused by mutations in the GABRA1 gene. This gene encodes the alpha-1 subunit of the GABA-A receptor, which plays a crucial role in inhibitory neurotransmission in the brain. When this receptor function is compromised due to genetic mutations, it leads to uncontrolled neuronal excitability, resulting in treatment-resistant seizures and significant developmental impairments.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic test specifically targets and analyzes the entire GABRA1 gene to identify:
- Pathogenic point mutations affecting GABA receptor function
- Missense mutations that alter protein structure
- Nonsense mutations leading to premature stop codons
- Frameshift mutations disrupting normal gene reading
- Splice site variants affecting mRNA processing
- Copy number variations within the GABRA1 locus
The test utilizes cutting-edge Next-Generation Sequencing technology to provide comprehensive coverage of all coding regions and critical regulatory elements of the GABRA1 gene, ensuring maximum detection sensitivity for clinically relevant variants.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for infants and children presenting with the following symptoms:
- Early-onset seizures within the first 6 months of life
- Treatment-resistant epilepsy unresponsive to multiple antiepileptic medications
- Developmental regression or significant developmental delays
- Abnormal EEG patterns including hypsarrhythmia
- Infantile spasms or tonic-clonic seizures
- Hypotonia (reduced muscle tone) or hypertonia
- Microcephaly or abnormal head growth patterns
- Family history of similar neurological disorders
Specific Patient Populations
- Infants with suspected genetic epilepsy syndromes
- Patients with unexplained developmental encephalopathies
- Children with seizure disorders of unknown etiology
- Families seeking genetic counseling for recurrence risk assessment
Benefits of GABRA1 Genetic Testing
Clinical Advantages
- Definitive Diagnosis: Provides conclusive genetic confirmation of EIEE19, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Early Intervention: Facilitates timely implementation of appropriate management strategies
- Research Contribution: Contributes to ongoing scientific understanding of genetic epilepsy disorders
Practical Benefits
- Avoids unnecessary and invasive diagnostic procedures
- Reduces healthcare costs associated with prolonged diagnostic odyssey
- Provides psychological relief through definitive answers
- Enables connection with support networks and specialized care centers
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling service helps you understand your results:
- Positive Result: Identification of a pathogenic GABRA1 mutation confirms the diagnosis of Early Infantile Epileptic Encephalopathy Type 19. This information guides specific treatment approaches and provides recurrence risk information for family members.
- Negative Result: No pathogenic GABRA1 mutations detected. This may suggest alternative genetic causes or non-genetic factors contributing to the clinical presentation, requiring further evaluation.
- Variant of Uncertain Significance (VUS): Identification of genetic changes with unclear clinical implications. Ongoing research may provide additional information about these variants over time.
Post-Test Guidance
- Detailed consultation with our genetic counselors to explain results
- Referral to appropriate neurological specialists for management
- Coordination with epilepsy treatment centers if needed
- Family testing recommendations when applicable
- Access to patient support resources and advocacy groups
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar neurological symptoms
- Informed consent for genetic testing and result disclosure
Nationwide Accessibility
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services for families throughout the country.
Take the Next Step Toward Answers
If your child is experiencing symptoms suggestive of Early Infantile Epileptic Encephalopathy Type 19, don’t delay in seeking definitive answers. Our specialized genetic testing provides the clarity needed to guide appropriate medical management and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the GABRA1 Gene Test. Our compassionate team is ready to support you through every step of the testing process, from initial consultation to comprehensive result interpretation.
Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Take control of your child’s neurological health with our advanced genetic testing services.
