SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic Test
Short Name: SCN2A EIEE11 NGS Test
Also known as: SCN2A Gene Sequencing, SCN2A Mutation Analysis, EIEE11 Genetic Test, SCN2A-related Epileptic Encephalopathy NGS
SCN2A Gene Early infantile epileptic encephalopathy type 11 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 3 to 4 weeks after the sample reaches the lab. Raw data, FASTQ and VCF files are delivered along with the conclusive clinical report.. 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 purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the SCN2A gene. Confirming a molecular diagnosis of EIEE11 can help clinicians distinguish it from other epileptic encephalopathies, guide genetic counselling, estimate recurrence risk, and centre care on seizure control and neurodevelopmental follow-up.
- Test Code
- 4029
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the sample reaches the lab. Raw data, FASTQ and VCF files are delivered along with the conclusive clinical report.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special fasting is required. A genetic counseling session is required to draw a pedigree chart of family members affected with EIEE11/SCN2A-related epilepsy. The referring Neurologist or Clinical Geneticist should complete a clinical history and consent form.
Method: Peripheral blood draw / FTA card blood spot / extracted DNA submission
Laboratory Analysis
The sample is collected as peripheral blood, FTA card blood spot or extracted DNA. The specimen is labelled and transported to the laboratory. NGS library preparation and sequencing occur in the lab.
Report Delivery
The sample is processed and analyzed. Raw data, FASTQ and VCF files are generated. The clinical report is issued in 3 to 4 weeks; post-test genetic counselling is advised to explain the result.
Timeline: 3 to 4 weeks after the sample reaches the lab. Raw data, FASTQ and VCF files are delivered along with the conclusive clinical report.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the SCN2A gene. Confirming a molecular diagnosis of EIEE11 can help clinicians distinguish it from other epileptic encephalopathies, guide genetic counselling, estimate recurrence risk, and centre care on seizure control and neurodevelopmental follow-up.
How to Prepare
- No fasting required.
- Blood should be collected in an EDTA vacutainer.
- FTA card: one drop of blood should be placed on the indicated circles and dried.
- Extracted DNA samples should be stored at 2-8 degrees Celsius and shipped on ice.
- Sample must be labelled with patient name, date and unique identification number.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"SCN2A encephalopathy should be suspected in an infant with early seizures, developmental delay and epileptiform EEG. A positive NGS result confirms EIEE11 and can help tailor seizure therapy, although each SCN2A variant requires individualized assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood
- Insufficient DNA quantity or degraded DNA
- Wrong anticoagulant tube
- Unlabelled or mismatched sample
Understanding Your Results
No pathogenic/likely pathogenic SCN2A variant detected
Negative result; SCN2A-related EIEE11 is not confirmed. If clinical suspicion remains, other SCN genes or copy-number analysis may be considered.
Pathogenic or likely pathogenic SCN2A variant detected
Molecular diagnosis of SCN2A-related EIEE11 is confirmed; genetic counselling and family screening are recommended.
Variant of uncertain significance (VUS) detected
Insufficient evidence to determine pathogenicity; the clinician should correlate with phenotype and consider parental testing and segregation analysis.
Benign or likely benign variant detected
No clinical implication for EIEE11; result is considered negative for that variant.
If an infant has early-onset seizures, developmental plateau or regression, or an abnormal EEG, consult a paediatric neurologist or clinical geneticist for genetic testing.
Limitations
- ⚠NGS detects small sequence variants in coding and canonical splice-site regions of SCN2A; large deletions, duplications, repeat expansions and deep intronic variants may not be detected.
- ⚠A variant of uncertain significance (VUS) is not diagnostic and may require segregation analysis in parents and siblings.
- ⚠A negative genetic test result does not exclude EIEE11 if clinical and EEG findings are strongly suggestive; alternative genetic causes should be considered.
Risks & Considerations
- ●Minimal risk of pain or bruising at the venipuncture site.
- ●FTA card finger prick may cause mild transient discomfort.
- ●Possible identification of a variant of uncertain significance; this may require further testing of parents and siblings.
Interfering Factors
- ●Low-level somatic or germline mosaicism may not be detected
- ●Sample contamination with another individual's DNA
- ●Insufficient or degraded DNA quantity
- ●Sequence variants in deep intronic or regulatory regions not covered by standard NGS
Compare With Similar Tests
| Test | SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic Test | Targeted SCN2A NGS | Sanger sequencing | Whole Exome Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|---|
| Comparison | SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic Test |
Frequently Asked Questions
What is SCN2A gene related early infantile epileptic encephalopathy type 11 (EIEE11)?
What are the symptoms of EIEE11?
How is EIEE11 diagnosed?
What is the cost of the SCN2A EIEE11 NGS genetic test?
Which sample is needed for this test?
Is fasting required before sample collection?
When will I get the report?
Does DNA Labs India provide raw data and VCF files?
Is home sample collection available?
What is NGS technology and why is it used?
Is genetic counselling necessary before and after this test?
Can this test be used to predict treatment response?
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