GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 NGS Genetic DNA Test
Comprehensive Genetic Testing for Severe Infant Epilepsy
The GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the GNAO1 gene that cause one of the most severe forms of infant epilepsy. This advanced testing methodology provides critical insights for families and healthcare providers dealing with unexplained neurological symptoms in infants.
What Does This Test Measure and Detect?
This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to comprehensively analyze the GNAO1 gene for pathogenic variants. The test specifically detects:
- Missense mutations in the GNAO1 gene
- Nonsense mutations leading to premature stop codons
- Frameshift mutations affecting protein structure
- Splice site variants impacting gene expression
- Copy number variations within the GNAO1 locus
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 3 months of life
- Intractable epilepsy resistant to conventional treatments
- Developmental regression or stagnation
- Movement disorders including choreoathetosis and dystonia
- Hypotonia (reduced muscle tone) progressing to hypertonia
- Abnormal EEG patterns characteristic of epileptic encephalopathy
- Family history of similar neurological conditions
Benefits of GNAO1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out GNAO1-related disorders with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on specific mutation type
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing scientific understanding of rare neurological disorders
Understanding Your Test Results
Interpretation Guidelines
Your test results will be carefully analyzed and interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of a pathogenic GNAO1 mutation consistent with Early Infantile Epileptic Encephalopathy Type 17
- Negative Result: Suggests that GNAO1 mutations are not the cause of the observed symptoms
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: May identify asymptomatic carriers in family members
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GNAO1 Gene Early Infantile Epileptic Encephalopathy Type 17 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of neurological symptoms and seizure characteristics
- Previous EEG and imaging results when available
Nationwide Testing Availability
We have established testing facilities across major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, and many other locations. Our network of certified genetic counselors and neurologists ensures comprehensive care and support throughout the testing process.
Take Action Today
Don’t let uncertainty about your child’s neurological symptoms continue. Early genetic diagnosis can make a significant difference in treatment outcomes and quality of life. Our team of genetic specialists and neurologists is ready to provide the answers you need.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your GNAO1 genetic testing appointment. Our compassionate staff will guide you through the testing process and answer any questions you may have about this important diagnostic procedure.
