KCNT1 Gene Early Infantile Epileptic Encephalopathy Type 14 NGS Genetic DNA Test
Comprehensive Introduction to KCNT1 Genetic Testing
The KCNT1 Gene Early Infantile Epileptic Encephalopathy Type 14 NGS Genetic DNA Test represents a groundbreaking advancement in pediatric neurological diagnostics. This specialized genetic test focuses on identifying mutations in the KCNT1 gene, which encodes a potassium channel subunit crucial for proper neuronal function. Early Infantile Epileptic Encephalopathy Type 14 (EIEE14) is a severe neurological disorder characterized by early-onset seizures that are often resistant to conventional antiepileptic medications. The importance of this test cannot be overstated, as it provides definitive molecular diagnosis, enabling targeted therapeutic interventions and informed family planning decisions.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically analyzes the KCNT1 gene to identify pathogenic variants responsible for EIEE14. The test measures:
- Point mutations, insertions, and deletions in the KCNT1 coding regions
- Missense mutations affecting potassium channel function
- Genetic variants that disrupt neuronal excitability
- Inheritance patterns through family genetic analysis
- Specific mutation types associated with seizure severity and treatment response
Who Should Consider KCNT1 Genetic Testing
This specialized genetic test is recommended for infants and children presenting with:
- Early-onset seizures within the first 6 months of life
- Drug-resistant epilepsy unresponsive to standard treatments
- Developmental regression or stagnation following seizure onset
- Abnormal EEG patterns suggestive of epileptic encephalopathy
- Family history of similar neurological conditions
- Unexplained infantile spasms or myoclonic seizures
- Multiple seizure types with progressive neurological decline
Significant Benefits of KCNT1 Genetic Testing
Undergoing KCNT1 genetic testing provides numerous advantages for patients and families:
- Precise Diagnosis: Eliminates diagnostic uncertainty and provides molecular confirmation
- Targeted Treatment: Enables consideration of specific potassium channel modulators
- Genetic Counseling: Facilitates informed family planning and recurrence risk assessment
- Prognostic Information: Helps predict disease course and potential complications
- Clinical Trial Eligibility: Opens doors to specialized treatment protocols
- Early Intervention: Allows for timely implementation of supportive therapies
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your KCNT1 test results:
- Positive Result: Indicates a pathogenic mutation in the KCNT1 gene, confirming EIEE14 diagnosis
- Negative Result: Suggests that KCNT1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members considering future pregnancies
All results are accompanied by detailed explanations and recommendations from our board-certified genetic counselors and neurologists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | KCNT1 Gene Early Infantile Epileptic Encephalopathy Type 14 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 |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Nationwide Testing Availability
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take Action Today – Book Your Test
Don’t let diagnostic uncertainty delay proper care for your child. Our expert team of genetic counselors and neurologists is ready to provide comprehensive evaluation and support. Schedule your KCNT1 genetic test today to gain crucial insights into your child’s neurological condition.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or speak with our genetic counseling specialists.
Early diagnosis through advanced genetic testing can make a significant difference in treatment outcomes and quality of life for children with EIEE14. Trust our experienced team to provide the comprehensive care and expert guidance your family deserves.
