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SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test

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SCN2A Gene Convulsions, benign familial infantile, 3 NGS Genetic Test

Short Name: SCN2A BFIC3 NGS Test

Also known as: SCN2A-related epilepsy, Benign familial infantile seizures type 3

SCN2A Gene Convulsions, benign familial infantile, 3 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. Free home collection in 300+ cities across India.

Genetic TestInfants and Young Children🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the SCN2A gene that cause benign familial infantile convulsions, enabling accurate diagnosis, targeted management, and genetic counseling.

Test Code
1572
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of affected family members.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample is drawn via venipuncture or collected on an FTA card, following standard phlebotomy procedures.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis in the laboratory.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and collection of clinical and family history.
2
During the Test:Blood draw and sample preparation for NGS.
3
After the Test:Sample analysis, report generation, and result discussion with a geneticist.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SCN2A gene that cause benign familial infantile convulsions, enabling accurate diagnosis, targeted management, and genetic counseling.

How to Prepare

  • Ensure accurate clinical history is documented
  • Genetic counseling session to discuss family history and test implications
  • Use appropriate sample type: blood, extracted DNA, or FTA card

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early diagnosis through SCN2A gene testing is crucial for managing infantile seizures and guiding appropriate therapeutic interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: stable for 7 days at room temperature
DNA: stable for years if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Degraded or contaminated DNA
  • Incorrect labeling or documentation

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic mutations in the SCN2A gene, with correlation to clinical symptoms.
📊

Positive

Pathogenic variant detected, confirming diagnosis of SCN2A-related BFIC3. Guides treatment and family counseling.

📊

Negative

No pathogenic variant found. Does not exclude other genetic causes; further testing may be needed.

📊

Variant of Uncertain Significance (VUS)

Genetic variant identified with unclear clinical significance. Requires additional evaluation and monitoring.

⚠️ When to Consult a Doctor:

If seizures persist, worsen, or if new neurological symptoms develop, consult a neurologist or genetic specialist for management adjustments.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications
  • ⚠Interpretation requires correlation with clinical history
  • ⚠Variant of uncertain significance (VUS) may be identified
  • ⚠Does not rule out other genetic or non-genetic causes of seizures

Risks & Considerations

  • ●Standard blood draw risks: bruising, infection, or discomfort
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Incorrect sample type or collection method
  • ●Technical errors in sequencing

Frequently Asked Questions

What is SCN2A gene convulsions?
SCN2A gene convulsions, or benign familial infantile convulsions type 3 (BFIC3), are a rare genetic epilepsy caused by mutations in the SCN2A gene, leading to seizures in infants.
How is the SCN2A gene test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample or FTA card, identifying mutations in the SCN2A gene.
What are the symptoms of benign familial infantile convulsions?
Symptoms include recurrent seizures (e.g., tonic-clonic, myoclonic), developmental delays, intellectual disability, and abnormal movements starting in infancy.
Who should get tested for SCN2A gene mutations?
Infants or young children with unexplained seizures, family history of epilepsy, or neurological symptoms suggestive of genetic epilepsy.
What is the cost of the SCN2A gene test?
The test costs INR 20,000, including home sample collection across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended before testing to discuss implications, family history, and draw a pedigree chart.
What are the treatment options for SCN2A-related epilepsy?
Treatment includes anti-epileptic drugs, physical therapy, speech therapy, and occupational therapy, tailored to symptom management.
Can this test be done during pregnancy?
This test is for postnatal diagnosis; prenatal testing may be available through genetic counseling, but consult a specialist.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. Government schemes like PMJAY may not cover it currently.
What are the limitations of the test?
Limitations include potential false negatives for certain mutation types and the possibility of variants of uncertain significance (VUS).
How accurate is the NGS test for SCN2A gene mutations?
NGS is highly accurate for detecting point mutations and small variants, but accuracy depends on sample quality and bioinformatics analysis.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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