KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test
Short Name: KCNT1 EIEE14 Test
Also known as: KCNT1 EIEE Type 14 Genetic Test, KCNT1 Gene Test for Epilepsy, Epileptic Encephalopathy Type 14 NGS Test
KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the KCNT1 Gene NGS Genetic Test is to detect mutations in the KCNT1 gene that cause Early Infantile Epileptic Encephalopathy Type 14. This confirms the clinical diagnosis, aids in treatment planning, facilitates genetic counseling for family members, and helps in understanding the prognosis.
- Test Code
- 1599
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Ensure sample is collected properly.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture by a trained phlebotomist.
Report Delivery
Sample is transported to the lab under appropriate conditions for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the KCNT1 Gene NGS Genetic Test is to detect mutations in the KCNT1 gene that cause Early Infantile Epileptic Encephalopathy Type 14. This confirms the clinical diagnosis, aids in treatment planning, facilitates genetic counseling for family members, and helps in understanding the prognosis.
How to Prepare
- Use sterile equipment for blood collection
- Label sample correctly with patient details
- Maintain sample at ambient temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for KCNT1 mutations is pivotal in managing early infantile epileptic encephalopathy, as it can inform treatment with targeted medications and guide family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Improperly labeled or contaminated samples
- Insufficient sample volume
Understanding Your Results
Pathogenic Variant Detected
Confirms diagnosis of KCNT1-related EIEE14. Genetic counseling and targeted treatment recommended.
Variant of Uncertain Significance (VUS)
Further clinical correlation and family studies may be needed. Consult a genetic counselor.
No Pathogenic Variant Detected
Does not rule out EIEE14 if clinical suspicion is high. Consider other genetic tests or follow-up.
Consult a neurologist or geneticist immediately if your infant shows signs of seizures, developmental delays, or if there is a family history of epilepsy.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or insertions
- ⚠Results may be inconclusive in some cases
- ⚠Does not rule out other genetic or non-genetic causes of epilepsy
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis on family
Interfering Factors
- ●Poor sample quality or insufficient DNA yield
- ●Contamination during sample collection or processing
- ●Presence of inhibitors in the sample affecting sequencing
Compare With Similar Tests
| Test | KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test | SCN1A Gene Test for Dravet Syndrome | Comprehensive Epilepsy Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test | Focuses on SCN1A gene, associated with Dravet syndrome, a different epilepsy type. | Includes multiple genes associated with epilepsy, providing broader but less specific testing. | Analyzes all protein-coding genes, useful for undiagnosed cases but higher cost and complexity. |
Frequently Asked Questions
What is the KCNT1 Gene Early Infantile Epileptic Encephalopathy Type 14 NGS Genetic Test?
Who should consider this genetic test?
What are the symptoms of KCNT1-related EIEE14?
How is the test performed?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get the results?
What do the test results mean?
Is the test covered by insurance?
What are the risks of the test?
Can the test be done on infants?
How accurate is the NGS genetic test for KCNT1 mutations?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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