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SCN2A Gene Dravet syndrome NGS Genetic Test

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SCN2A Gene Dravet syndrome NGS Genetic Test

Short Name: SCN2A Dravet NGS

Also known as: SCN2A gene sequencing, SCN2A NGS genetic test, SCN2A Dravet syndrome gene test, SCN2A-related epilepsy NGS panel

SCN2A Gene Dravet syndrome 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 will be delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages (commonly infants and 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

The purpose of this test is to identify pathogenic variants in the SCN2A gene associated with Dravet syndrome and related early-onset epileptic encephalopathies. The test result can help confirm a clinical diagnosis, guide management decisions, and enable genetic counselling for recurrence risk and family planning.

Test Code
4017
CPT Code
Not applicable
ICD Code
G40.83
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please carry previous consultation notes, genetic reports, and prescription/referral documents if available.

Method: Peripheral blood collection or FTA card spot

Step 2

Laboratory Analysis

A small blood sample will be collected from the arm by a trained phlebotomist. For infants, a drop of blood may be collected on an FTA card. Extracted DNA samples can also be submitted.

Step 3

Report Delivery

No restrictions. You can continue daily activities. The sample will be transported to the laboratory for NGS analysis.

Timeline: Reports will be delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counselling session may be performed to record family history and draw a pedigree chart.
2
During the Test:The testing process involves DNA extraction, NGS sequencing, bioinformatics analysis, and clinical interpretation.
3
After the Test:No recovery time is needed. The patient can return to normal routines immediately.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the SCN2A gene associated with Dravet syndrome and related early-onset epileptic encephalopathies. The test result can help confirm a clinical diagnosis, guide management decisions, and enable genetic counselling for recurrence risk and family planning.

How to Prepare

  • Verify patient identity before sample collection.
  • Use an EDTA vacutainer for whole blood and label it immediately.
  • If using an FTA card, apply one blood spot and allow it to air dry.
  • Ship samples in appropriate packaging at ambient temperature.
  • Avoid exposing the FTA card to moisture or heat.

Doctor's Notes

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

"Early genetic diagnosis of infantile epilepsy is important for accurate prognostication, management decisions, and family counselling. Patients and families should be supported by a multidisciplinary team including neurology and clinical genetics."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeBlood, extracted DNA, or one drop of blood on FTA card
ContainerEDTA vacutainer / FTA card / sterile tube
Collection MethodPeripheral blood collection or FTA card spot

Sample Stability

Whole blood in EDTA: stable for 24–72 hours at 2–8°C
FTA card blood spot: stable at room temperature for several weeks
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Unlabelled or mislabelled sample
  • Sample received in formalin or non-validated transport medium
  • FTA card exposed to moisture or contamination

Understanding Your Results

The report will state whether a pathogenic variant was identified in the SCN2A gene and provide a clinical interpretation. All results should be discussed with the referring clinician or a genetic counsellor.
📊

Positive

A pathogenic or likely pathogenic variant was identified in SCN2A, supporting a diagnosis of SCN2A-related Dravet syndrome.

📊

Negative

No pathogenic variant was identified in SCN2A. This does not exclude another genetic cause of epilepsy.

📊

Uncertain

A variant of uncertain significance was identified. Additional family studies and clinical correlation are needed.

⚠️ When to Consult a Doctor:

Consult a doctor if a child experiences early-onset seizures, prolonged febrile seizures, developmental delay/regression, or unexplained epileptic encephalopathy. A referral to a clinical geneticist is recommended for pre- and post-test counselling.

Limitations

  • ⚠This test only targets the SCN2A gene and does not rule out other genetic causes of epilepsy.
  • ⚠Large deletions, duplications, or structural rearrangements may not be reliably detected by standard NGS.
  • ⚠Variants of uncertain significance may be reported and require further family segregation studies.
  • ⚠Variant interpretation may change as new evidence emerges.
  • ⚠Predictive testing in asymptomatic individuals requires prior genetic counselling.

Risks & Considerations

  • ●Slight discomfort during blood collection
  • ●Bruising at the venipuncture site
  • ●Rare risk of infection at the puncture site

Interfering Factors

  • ●Maternal cell contamination
  • ●DNA degradation due to improper storage or transport
  • ●Low DNA yield from the sample
  • ●Incomplete coverage in GC-rich regions
  • ●Sample mix-up or mislabelling

Compare With Similar Tests

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Frequently Asked Questions

What is the price of the SCN2A Gene Dravet syndrome NGS test?
The test costs INR 20,000 at DNA Labs India. The price includes NGS analysis, clinical interpretation, and free home sample collection in select cities.
What does the SCN2A gene do?
The SCN2A gene encodes the alpha-2 subunit of a voltage-gated sodium channel in the brain. This channel controls sodium ion flow across neuronal membranes and is critical for normal brain electrical signalling.
Can SCN2A mutations cause Dravet syndrome?
Yes. Dravet syndrome is most often linked to SCN1A mutations, but studies show SCN2A mutations can also cause early-onset epileptic encephalopathies with features similar to Dravet syndrome.
How is the SCN2A NGS genetic test done?
DNA is extracted from blood, extracted DNA, or a dried blood spot on an FTA card. The SCN2A gene is sequenced using next-generation sequencing technology to look for variants.
Is fasting required before this test?
No. Fasting is not required. The test can be performed at any time of the day.
What sample is accepted for this test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the report?
Reports are usually ready within 3 to 4 weeks after the sample is received.
What will my report include?
The report includes the sequence analysis of the SCN2A gene, interpretation of variants, clinical significance, and a conclusive clinical report. DNA Labs India also provides raw data files such as FASTQ and VCF.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose effect on health is not yet known. Additional family studies and clinical correlation are required to decide its role in the disease.
Can a negative result completely rule out Dravet syndrome?
No. A negative SCN2A result reduces the likelihood of SCN2A-related disease, but other genes such as SCN1A may still be involved. A broader epilepsy gene panel or whole exome sequencing may be needed.
Why is genetic counselling recommended before and after this test?
Genetic counselling helps interpret the indication, explain the limitations, draw a family pedigree, and discuss recurrence risks and medical management based on the result.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
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.

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✓ 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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