CHRNB2 Gene Epilepsy Nocturnal Frontal Lobe Type 3 NGS Genetic DNA Test
Comprehensive Introduction to CHRNB2 Genetic Testing
The CHRNB2 Gene Epilepsy Nocturnal Frontal Lobe Type 3 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the CHRNB2 gene, which encodes the beta-2 subunit of the neuronal nicotinic acetylcholine receptor. When this gene undergoes specific mutations, it can lead to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), a rare form of epilepsy characterized by seizures that occur predominantly during sleep.
This genetic test is particularly important because ADNFLE often goes undiagnosed or misdiagnosed for years, as symptoms can be mistaken for nightmares, sleep terrors, or other sleep disorders. By identifying the underlying genetic cause, patients and healthcare providers can develop targeted treatment strategies that address the specific neurological mechanisms involved.
What the CHRNB2 Genetic Test Detects
Our NGS-based genetic test specifically analyzes the CHRNB2 gene for mutations associated with nocturnal frontal lobe epilepsy type 3. The test examines:
- Point mutations in the CHRNB2 gene coding regions
- Small insertions and deletions affecting gene function
- Specific variants known to disrupt nicotinic acetylcholine receptor function
- Genetic changes that alter neuronal excitability in frontal lobe circuits
The CHRNB2 gene plays a critical role in regulating neuronal communication in the brain’s frontal lobes. Mutations in this gene can cause hyperexcitability of neurons, leading to the characteristic seizure activity observed in ADNFLE patients during sleep.
Who Should Consider CHRNB2 Genetic Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing:
- Recurrent nocturnal seizures with hypermotor features
- Unexplained sleep disturbances with sudden awakenings
- Family history of nocturnal epilepsy or seizure disorders
- Seizures characterized by asymmetric tonic or dystonic posturing
- Episodes of vocalizations, thrashing movements, or bicycling motions during sleep
- Resistance to conventional anti-epileptic medications
- Early-onset epilepsy with nocturnal predominance
Individuals with a confirmed family history of ADNFLE should strongly consider genetic testing, as this condition follows an autosomal dominant inheritance pattern, meaning there’s a 50% chance of passing the mutation to offspring.
Benefits of CHRNB2 Genetic Testing
Undergoing CHRNB2 genetic testing provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms ADNFLE type 3, eliminating years of diagnostic uncertainty
- Personalized Treatment: Guides selection of appropriate anti-epileptic medications
- Genetic Counseling: Provides essential information for family planning decisions
- Early Intervention: Enables proactive management before symptoms worsen
- Family Screening: Identifies at-risk relatives who may benefit from monitoring
- Improved Quality of Life: Reduces seizure frequency and severity through targeted therapy
Understanding Your Test Results
Interpretation Guidelines
Your CHRNB2 genetic test results will fall into one of several categories:
- Positive Result: A pathogenic mutation was identified in the CHRNB2 gene, confirming ADNFLE type 3 diagnosis. This result provides definitive evidence for the genetic basis of your symptoms and guides specific treatment approaches.
- Negative Result: No known pathogenic mutations were detected in the CHRNB2 gene. This suggests your symptoms may be caused by other genetic factors or non-genetic causes, requiring further neurological evaluation.
- Variant of Uncertain Significance (VUS): A genetic change was found, but its clinical significance is currently unknown. Additional family studies or research may be needed to determine if this variant contributes to your condition.
All results are accompanied by comprehensive genetic counseling to ensure you fully understand the implications for your health and family members.
Test Pricing and Booking Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
Pre-Test Requirements
Before undergoing CHRNB2 genetic testing, patients should complete:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of a detailed pedigree chart documenting family members affected by epilepsy or similar neurological conditions
- Discussion of test implications, benefits, and potential outcomes
Nationwide Availability
We have diagnostic centers conveniently located throughout the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Neurological Health
Don’t let unexplained nocturnal symptoms or family history of epilepsy remain a mystery. The CHRNB2 Gene Epilepsy Nocturnal Frontal Lobe Type 3 NGS Genetic DNA Test provides the clarity needed for effective treatment and management. Our team of neurological genetic specialists is ready to guide you through the testing process and help interpret your results.
Book your CHRNB2 genetic test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic predisposition and achieving better seizure control.
