GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infantile Epilepsy
The GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the GABRB1 gene, which plays a critical role in brain development and neurological function. Early infantile epileptic encephalopathy type 45 is a severe neurological condition characterized by treatment-resistant seizures that typically begin within the first months of life, often leading to significant developmental delays and lifelong neurological challenges.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the GABRB1 gene, which encodes the beta-1 subunit of the GABA-A receptor. The test detects:
- Pathogenic variants and mutations in the GABRB1 gene
- Single nucleotide polymorphisms associated with epileptic encephalopathy
- Deletions, duplications, and insertions affecting gene function
- Novel genetic variations that may contribute to disease development
- Inheritance patterns and familial risk assessment
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Treatment-resistant epilepsy that doesn’t respond to standard medications
- Developmental regression or stagnation following seizure onset
- Abnormal EEG patterns consistent with epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained developmental delays with seizure activity
- Hypotonia (reduced muscle tone) or hypertonia (increased muscle tone)
- Abnormal movements or movement disorders
Benefits of GABRB1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive genetic confirmation of EIEE type 45
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential outcomes
- Family Planning: Provides crucial information for genetic counseling and future family planning
- Early Intervention: Facilitates timely implementation of appropriate interventions and therapies
- Research Contribution: Contributes to ongoing research and understanding of rare neurological disorders
Understanding Your Test Results
Interpretation and Clinical Guidance
Our comprehensive genetic counseling services help you understand your test results:
- Positive Result: Indicates the presence of a pathogenic mutation in the GABRB1 gene, confirming the diagnosis of early infantile epileptic encephalopathy type 45
- Negative Result: Suggests that no disease-causing mutations were detected in the GABRB1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring ongoing monitoring and research
- Carrier Status: Provides information about inheritance patterns and recurrence risks for future pregnancies
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 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 |
| Specialty | Neurology |
| Department | Genetics |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures convenient access to this specialized genetic testing regardless of your location.
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we provide:
- Comprehensive clinical history assessment of the patient
- Professional genetic counseling sessions
- Detailed pedigree chart development of affected family members
- Explanation of testing process, benefits, and potential outcomes
- Informed consent discussion and documentation
Take the Next Step Toward Accurate Diagnosis
Don’t let uncertainty about your child’s neurological condition continue. Our GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and treatment planning. With our discounted price of $500 USD (regularly $700), advanced technology, and comprehensive genetic counseling, you can make informed decisions about your child’s healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or book your test online. Our genetic specialists are ready to assist you with this important diagnostic process and provide the support your family needs.
