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Nx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test

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Nx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test

Short Name: Dravet's Syndrome & EIEE Genetic Test

Also known as: Genetic Test for Dravet's Syndrome, EIEE Genetic Sequencing, SCN1A Mutation Test

Nx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test test available at DNA Labs India for ₹23,400. Uses NGS, Sanger sequencing on Whole blood samples. Results in 40 Working days from sample receipt. Free home collection in 300+ cities across India.

NeurologistInfants and Children🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this genetic test is to provide a definitive diagnosis for Dravet's Syndrome and Early Infantile Epileptic Encephalopathy by analyzing DNA for mutations in relevant genes. It aids in confirming clinical suspicion, guiding treatment decisions, and offering family genetic counseling. The test covers a panel of genes implicated in these disorders, ensuring comprehensive detection of causative variants.

Test Code
1334
Price
₹23,400
Sample Type
Whole blood
Result Time
40 Working days from sample receipt
Fasting Required
No
Method
NGS, Sanger sequencing
Step 1

Sample Collection

Ensure the Whole Exome Sequencing Consent Form (Form 37) is duly filled. No fasting is required, but adequate hydration is recommended for blood draw.

Method: Blood draw

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein, typically from the arm. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. The sample will be processed and shipped refrigerated to the lab.

Timeline: 40 Working days from sample receipt

Patient Instructions

1
Before the Test:Complete consent form and ensure sample collection instructions are followed. No special preparation needed beyond standard blood draw.
2
During the Test:Blood sample is collected and sent to the laboratory for DNA extraction and sequencing.
3
After the Test:Results are available after 40 working days. A detailed report will be provided via preferred delivery method.

About This Test

Who Should Get This Test

The purpose of this genetic test is to provide a definitive diagnosis for Dravet's Syndrome and Early Infantile Epileptic Encephalopathy by analyzing DNA for mutations in relevant genes. It aids in confirming clinical suspicion, guiding treatment decisions, and offering family genetic counseling. The test covers a panel of genes implicated in these disorders, ensuring comprehensive detection of causative variants.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes.
  • Ship refrigerated. DO NOT FREEZE.
  • Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Doctor's Notes

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

"Early genetic diagnosis is essential for managing severe epileptic encephalopathies in infants, allowing for targeted treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume10 mL (5 mL min.)
Container2 Lavender Top (EDTA) tubes
Collection MethodBlood draw

Sample Stability

Room Temperature
Refrigerator
Frozen
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Missing consent form
  • Improper labeling or container

Understanding Your Results

Results indicate whether pathogenic mutations in the analyzed genes are detected. A positive result confirms genetic basis for the condition, while a negative result may require further testing or clinical evaluation.
📊

Positive

Pathogenic variant detected, consistent with Dravet's Syndrome or EIEE. Correlate with clinical presentation.

📊

Negative

No pathogenic variants detected in the panel. Consider other genetic or non-genetic causes.

📊

Variant of Uncertain Significance (VUS)

Genetic variant found but clinical significance unclear. Requires monitoring and possible family studies.

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms like frequent seizures, developmental delays, or movement issues are observed. After receiving test results, seek genetic counseling for interpretation and management planning.

Limitations

  • May not detect all genetic mutations due to technical limitations
  • Limited to genes in the panel; other causes may not be identified
  • Results require clinical correlation and may need confirmation with additional tests

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results
  • Privacy concerns with genetic data

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Insufficient sample volume
  • Improper sample storage

Compare With Similar Tests

TestNx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy TestWhole Exome SequencingSCN1A Gene TestEpilepsy Gene PanelGenetic Carrier Screening
ComparisonNx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test

Frequently Asked Questions

What is Dravet's Syndrome?
Dravet's Syndrome is a rare genetic disorder caused by mutations in the SCN1A gene, leading to severe epilepsy with febrile seizures in infancy and other neurological issues.
What is Early Infantile Epileptic Encephalopathy (EIEE)?
EIEE is a severe form of epilepsy beginning in infancy, characterized by frequent seizures, developmental delays, and intellectual disability, often due to genetic mutations.
How does the Nx Gen Sequencing test work?
The test uses next-generation sequencing (NGS) and Sanger sequencing to analyze DNA from a blood sample for mutations in genes associated with Dravet's Syndrome and EIEE.
What is the cost of this genetic test?
The cost is INR 23400, which includes DNA analysis and a comprehensive report. Home collection is available at no extra charge.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
How long does it take to get the test results?
Results are typically available within 40 working days from the date of sample receipt.
What genes are analyzed in this test?
The test covers multiple genes including ARHGEF9, ARX, CDKL5, SCN1A, STXBP1, and others linked to epileptic encephalopathies.
What do the test results mean?
A positive result indicates a genetic mutation causing the condition, while a negative result suggests no mutations in the tested genes. A variant of uncertain significance may require further evaluation.
Is the test accurate?
The test uses advanced sequencing methods for high accuracy, but no genetic test is 100% infallible. Clinical correlation is essential.
Are there any risks associated with this test?
Risks are minimal, including those from blood draw (e.g., bruising). Genetic testing may have psychological impacts, so genetic counseling is recommended.
Do I need a doctor's referral for this test?
While a referral from a neurologist or specialist is recommended for clinical relevance, it may not be strictly required. Consult your healthcare provider.
How should I prepare for the test?
No fasting is needed. Ensure the consent form is filled, and follow sample collection instructions. Stay hydrated for easier blood draw.
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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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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