KCNQ2 Gene Seizures Benign Neonatal Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neonatal Seizure Disorders
The KCNQ2 Gene Seizures Benign Neonatal Type 1 NGS Genetic DNA Test represents a significant advancement in pediatric neurology diagnostics. This specialized genetic test focuses on identifying mutations in the KCNQ2 gene, which encodes a potassium channel protein crucial for normal neuronal function. When mutations occur in this gene, they can disrupt the delicate balance of electrical activity in the brain, leading to seizure disorders that typically manifest during the neonatal period.
What Does This Test Measure and Detect?
This advanced genetic screening utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the KCNQ2 gene for pathogenic variants. The test specifically detects:
- Point mutations affecting potassium channel function
- Missense mutations that alter protein structure
- Frameshift mutations disrupting gene reading frames
- Deletion and duplication variants affecting gene dosage
- Novel mutations not previously documented in medical literature
The KCNQ2 gene plays a critical role in regulating neuronal excitability by controlling potassium flow across cell membranes. Mutations in this gene typically result in impaired channel function, leading to neuronal hyperexcitability and subsequent seizure activity.
Who Should Consider This Genetic Test?
This test is particularly recommended for infants and families experiencing:
- Newborns presenting with unexplained seizures within the first days or weeks of life
- Infants with brief, recurrent seizure episodes lasting seconds to minutes
- Families with a history of neonatal seizures across multiple generations
- Cases where standard neurological examinations reveal no structural brain abnormalities
- Infants whose seizures spontaneously resolve within weeks or months
- Cases where anticonvulsant medications provide effective seizure control
Clinical Benefits of KCNQ2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the specific genetic cause of neonatal seizures, enabling precise classification of the seizure disorder
- Treatment Guidance: Helps neurologists select appropriate anticonvulsant medications based on the underlying genetic mechanism
- Prognostic Information: Provides insight into the expected clinical course and long-term neurological outcomes
- Family Planning: Enables genetic counseling for family members regarding inheritance patterns and recurrence risks
- Early Intervention: Facilitates timely implementation of appropriate management strategies
- Differential Diagnosis: Helps distinguish benign familial neonatal seizures from more severe epileptic encephalopathies
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic mutation in the KCNQ2 gene, confirming the diagnosis of benign familial neonatal seizures type 1
- Negative Result: Suggests that KCNQ2 mutations are not the cause of the seizure disorder, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Provides information about inheritance patterns and recurrence risks for future pregnancies
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for families nationwide.
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient’s seizure presentation
- Genetic counseling session to construct a detailed family pedigree
- Neurological evaluation to rule out other potential causes of seizures
- Discussion of potential implications for family members
Take the Next Step Toward Genetic Clarity
If your infant is experiencing unexplained seizures or if you have a family history of neonatal seizure disorders, the KCNQ2 Gene Seizures Benign Neonatal Type 1 NGS Genetic DNA Test can provide the answers you need. Our team of genetic specialists and neurologists are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Early genetic diagnosis can make a significant difference in managing neonatal seizure disorders and planning for your child’s neurological health.
