ATP6AP2 Gene Mental Retardation X-Linked with Epilepsy NGS Genetic DNA Test
Understanding ATP6AP2 Gene Testing
The ATP6AP2 Gene Mental Retardation X-Linked with Epilepsy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized examination focuses on identifying mutations in the ATP6AP2 gene, which plays a critical role in brain development and function. The ATP6AP2 gene encodes a protein essential for proper cellular function in the nervous system, and mutations in this gene are directly linked to X-linked intellectual disability accompanied by epilepsy.
What Does This Test Measure?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the ATP6AP2 gene for:
- Point mutations and single nucleotide variations
- Small insertions and deletions
- Copy number variations affecting gene function
- Structural variations impacting protein production
- Inheritance patterns consistent with X-linked transmission
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with:
- Unexplained developmental delays or intellectual disability
- Recurrent seizure activity or epilepsy diagnosis
- Family history of X-linked neurological disorders
- Multiple male family members affected by similar symptoms
- Unexplained cognitive impairment in childhood
- Suspected genetic basis for neurological symptoms
Clinical Indications and Symptoms
Patients typically present with a combination of symptoms including:
- Moderate to severe intellectual disability
- Developmental regression or plateau
- Various forms of epilepsy including tonic-clonic seizures
- Speech and language delays
- Motor coordination difficulties
- Behavioral challenges and social interaction difficulties
Benefits of ATP6AP2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out ATP6AP2-related disorders
- Personalized Treatment: Guides appropriate anti-epileptic medication selection
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables timely therapeutic interventions
- Prognostic Information: Helps understand disease progression and outcomes
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates a pathogenic mutation in the ATP6AP2 gene, confirming the diagnosis
- Negative Result: Suggests ATP6AP2 mutations are not the cause of symptoms
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Important for female relatives in X-linked inheritance patterns
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ATP6AP2 Gene Mental Retardation X-Linked with Epilepsy 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
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 genetic testing facilities ensures accessibility and convenience for families nationwide.
Take the Next Step Toward Answers
If you or a family member are experiencing symptoms suggestive of ATP6AP2-related disorders, don’t wait to seek answers. Early genetic diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists and neurologists are ready to provide comprehensive support throughout your testing journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your ATP6AP2 genetic test and take the first step toward understanding your neurological health.
Our compassionate genetic counselors will guide you through the testing process, answer your questions, and help you understand what to expect from your results. With our advanced NGS technology and expert interpretation, you can trust that you’re receiving the most accurate and comprehensive genetic analysis available.
