CLCN2 Gene Epilepsy Idiopathic Generalized Type 11 NGS Genetic DNA Test
Understanding CLCN2 Gene Epilepsy Testing
The CLCN2 Gene Epilepsy Idiopathic Generalized Type 11 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the CLCN2 gene, which encodes the chloride channel protein CLC-2. Disruptions in this gene have been scientifically linked to idiopathic generalized epilepsy type 11, a hereditary form of epilepsy characterized by various seizure types without identifiable structural brain abnormalities.
What Does This Test Measure?
This comprehensive genetic analysis utilizes Next Generation Sequencing (NGS) technology to examine the complete coding region of the CLCN2 gene. The test detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the CLCN2 gene
- Pathogenic variants associated with epilepsy susceptibility
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained recurrent seizures or convulsions
- Family history of epilepsy or seizure disorders
- Treatment-resistant epilepsy cases
- Generalized tonic-clonic seizures without clear cause
- Absence seizures or myoclonic jerks
- Early-onset epilepsy symptoms
Clinical Indications and Symptoms
Patients presenting with symptoms such as sudden loss of consciousness, involuntary muscle contractions, staring spells, or unexplained neurological episodes should consider this test. Early genetic diagnosis can significantly impact treatment outcomes and family planning decisions.
Benefits of CLCN2 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of epilepsy type
- Personalized Treatment: Enables targeted anti-epileptic medication selection
- Family Planning: Offers genetic counseling for inheritance risk assessment
- Prognostic Information: Helps predict disease course and potential complications
- Early Intervention: Facilitates timely management strategies
- Research Contribution: Advances understanding of genetic epilepsy mechanisms
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
Positive Result
A positive result indicates the presence of a pathogenic mutation in the CLCN2 gene. This confirms the genetic basis of your epilepsy and provides valuable information for treatment planning and family risk assessment.
Negative Result
A negative result means no disease-causing mutations were detected in the CLCN2 gene. However, this doesn’t completely rule out genetic epilepsy, as other genes may be involved.
Variant of Uncertain Significance
Some genetic changes may be identified whose clinical significance is currently unknown. These variants require ongoing monitoring and may be reclassified as more research becomes available.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CLCN2 Gene Epilepsy Idiopathic Generalized Type 11 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Pre-Test Requirements
Before undergoing testing, patients must provide:
- Complete clinical history relevant to epilepsy symptoms
- Participation in genetic counseling session
- Family pedigree chart documenting affected relatives
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly offer this advanced genetic testing service 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 laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Neurological Health
Understanding the genetic basis of epilepsy can transform your treatment journey and provide clarity for your entire family. Our team of neurological genetics specialists is ready to guide you through every step of the testing process, from initial consultation to result interpretation and ongoing management.
Ready to begin your genetic testing journey? Contact our genetic counseling team today at +1(267) 388-9828 or schedule your appointment online. Take the first step toward personalized epilepsy management and genetic clarity.
