CHRNA4 Gene Epilepsy Nocturnal Frontal Lobe Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Nocturnal Frontal Lobe Epilepsy
The CHRNA4 Gene Epilepsy Nocturnal Frontal Lobe Type 1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations in the CHRNA4 gene that cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). This sophisticated genetic analysis provides crucial insights for patients and families affected by this distinctive form of epilepsy that predominantly manifests during sleep cycles.
What Does This Test Measure?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the CHRNA4 gene, which encodes the alpha-4 subunit of the neuronal nicotinic acetylcholine receptor. The test specifically detects:
- Point mutations and single nucleotide variants in the CHRNA4 gene
- Small insertions and deletions affecting gene function
- Genetic alterations associated with autosomal dominant inheritance patterns
- Specific mutations known to disrupt normal neuronal signaling pathways
The CHRNA4 gene plays a critical role in regulating neuronal excitability, and mutations in this gene can lead to hyperexcitability in the frontal lobes during sleep, resulting in the characteristic seizure patterns of ADNFLE.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals experiencing:
- Recurrent nocturnal seizures with hypermotor features
- Unexplained sleep disturbances with abnormal movements
- Family history of nocturnal frontal lobe epilepsy
- Seizures predominantly occurring during non-REM sleep stages
- Resistance to conventional anti-epileptic medications
- Complex partial seizures with frontal lobe semiology
Individuals with a confirmed family history of ADNFLE should strongly consider genetic testing for accurate diagnosis and family planning purposes.
Clinical Benefits of CHRNA4 Genetic Testing
Undergoing CHRNA4 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms ADNFLE diagnosis and differentiates from other epilepsy types
- Personalized Treatment: Guides selection of appropriate anti-epileptic medications
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Information: Helps predict disease course and potential complications
- Family Screening: Enables early detection in at-risk family members
- Therapeutic Guidance: Informs decisions about medication adjustments and lifestyle modifications
Understanding Your Test Results
Your CHRNA4 genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of a pathogenic mutation in the CHRNA4 gene, confirming ADNFLE diagnosis and providing important information for treatment planning
- Negative Result: Suggests that CHRNA4 mutations are not the cause of symptoms, potentially indicating other genetic or non-genetic epilepsy forms
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before undergoing CHRNA4 genetic testing, patients should provide:
- Complete clinical history detailing epilepsy symptoms and patterns
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by similar symptoms
- Neurological evaluation and documentation
Nationwide Testing Availability
GGC DNA offers comprehensive CHRNA4 genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, reliable results regardless of your location.
Take Control of Your Neurological Health
Understanding the genetic basis of nocturnal frontal lobe epilepsy can transform your approach to treatment and management. With precise genetic information, you and your healthcare team can develop targeted strategies that address the specific underlying cause of your condition.
Ready to schedule your CHRNA4 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Don’t let uncertainty about your neurological symptoms continue. Take the first step toward clarity and personalized care with advanced CHRNA4 genetic testing from GGC DNA.
