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DNA Labs India

Early Infantile Epileptic Encephalopathy Gene Panel Test

DNA Labs India | ISO 9001:2015 Certified

Early Infantile Epileptic Encephalopathy Gene Panel Test

Short Name: EIEE Gene Panel

Also known as: EIEE Panel, Ohtahara Syndrome Gene Panel, Neonatal Epileptic Encephalopathy Panel

Early Infantile Epileptic Encephalopathy Gene Panel Test test available at DNA Labs India for ₹36,000. Uses Next-Generation Sequencing (NGS) on Amniotic fluid / Chorionic villi / Peripheral blood samples. Results in Reports are typically available within 4-6 weeks after the sample reaches the lab.. Free home collection in 300+ cities across India.

NGS Gene PanelInfants and Children🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the EIEE Gene Panel is to identify the underlying genetic cause of early infantile epileptic encephalopathy. This helps confirm the clinical diagnosis, differentiate from other epileptic syndromes, guide treatment decisions (e.g., use of specific anti-seizure medications), and provide accurate recurrence risk for family planning.

Test Code
6097
CPT Code
81419
ICD Code
G40.89
Price
₹36,000
Sample Type
Amniotic fluid / Chorionic villi / Peripheral blood
Result Time
Reports are typically available within 4-6 weeks after the sample reaches the lab.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. For prenatal samples, a doctor's prescription is mandatory. Inform the lab if the patient has had a bone marrow transplant or blood transfusion recently.

Method: Venipuncture or Amniocentesis

Step 2

Laboratory Analysis

Blood sample is drawn from a vein in the arm. For amniotic fluid, a healthcare professional performs amniocentesis under ultrasound guidance.

Step 3

Report Delivery

No specific aftercare needed. For amniocentesis, rest and monitoring for any complications are advised.

Timeline: Reports are typically available within 4-6 weeks after the sample reaches the lab.

Patient Instructions

1
Before the Test:Discuss with your doctor about the need for genetic testing. Provide family history and any previous test results.
2
During the Test:The test involves a simple blood draw or prenatal procedure. No pain except minor discomfort.
3
After the Test:You will receive the report in 4-6 weeks. A genetic counselor will explain the results and implications.

About This Test

Who Should Get This Test

The purpose of the EIEE Gene Panel is to identify the underlying genetic cause of early infantile epileptic encephalopathy. This helps confirm the clinical diagnosis, differentiate from other epileptic syndromes, guide treatment decisions (e.g., use of specific anti-seizure medications), and provide accurate recurrence risk for family planning.

How to Prepare

  • Peripheral blood: Collect in EDTA vacutainer, mix gently.
  • Amniotic fluid: Collect in sterile container, avoid contamination.
  • Chorionic villi: Collect in sterile container with transport medium.
  • Ship samples at room temperature or with cool pack as per instructions.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early identification of genetic etiology in EIEE is crucial for prognosis and family counseling. This panel covers key genes to guide management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeAmniotic fluid / Chorionic villi / Peripheral blood
Sample Volume5 mL blood or 10 mL amniotic fluid
ContainerEDTA Vacutainer / Sterile container
Collection MethodVenipuncture or Amniocentesis

Sample Stability

Blood: 24 hours at room temperature, 7 days at 2-8°C
Amniotic fluid: 48 hours at room temperature, 7 days at 2-8°C
Chorionic villi: 24 hours at room temperature, 7 days at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect container or insufficient volume
  • Sample leaking or not labeled properly
  • Prenatal sample without proper consent or requisition

Understanding Your Results

The results of the EIEE Gene Panel are interpreted by clinical geneticists. A positive result indicates the presence of a pathogenic or likely pathogenic variant in a gene associated with EIEE, confirming the diagnosis. A negative result does not exclude EIEE, and variants of uncertain significance may require further investigation.
📊

Positive (Pathogenic variant)

Confirms genetic cause of EIEE; enables targeted treatment and recurrence risk counseling.

📊

Negative (No pathogenic variant)

EIEE may still be present; consider other genetic tests or non-genetic causes.

📊

Variant of Uncertain Significance (VUS)

Further testing of family members or functional studies may be needed to clarify significance.

⚠️ When to Consult a Doctor:

Consult a pediatric neurologist or clinical geneticist if your infant has seizures, developmental delay, or abnormal muscle tone. Early referral for genetic testing can aid in diagnosis and management.

Limitations

  • This panel does not detect all possible genetic causes of EIEE; some genes may not be included.
  • Negative results do not rule out EIEE; other genetic or non-genetic causes may exist.
  • Variant interpretation may be limited by current scientific knowledge.
  • Prenatal samples require prior genetic counseling and appropriate consent.

Risks & Considerations

  • Blood draw: minor bruising or infection (rare)
  • Amniocentesis: small risk of miscarriage or infection
  • Emotional impact of genetic results

Interfering Factors

  • Maternal cell contamination in prenatal samples
  • Low DNA quality or quantity
  • Presence of large deletions/duplications not detected by NGS
  • Variant of uncertain significance (VUS) may require further testing

Compare With Similar Tests

TestEarly Infantile Epileptic Encephalopathy Gene PanelSingle Gene Testing (e.g., SCN1A)Chromosomal Microarray (CMA)Whole Exome Sequencing (WES)
ComparisonEarly Infantile Epileptic Encephalopathy Gene PanelTargets one gene; less comprehensive, may miss other causes. EIEE panel covers multiple genes in one test.Detects copy number variants but not single nucleotide variants. Panel is more suitable for EIEE.Broader coverage but higher cost and longer turnaround. Panel is more focused and cost-effective.

Frequently Asked Questions

What is the cost of the EIEE Gene Panel at DNA Labs India?
The cost is INR 36,000, which includes genetic testing and expert interpretation. Free home sample collection is available.
What sample is required for the EIEE Gene Panel?
The sample can be peripheral blood, amniotic fluid, or chorionic villi, depending on the clinical scenario.
How long does it take to get the results?
Results are typically available within 4-6 weeks after the sample is received.
Is a doctor's prescription required for this test?
Yes, a doctor's prescription is required. However, it is not applicable for surgery or pregnancy cases or for those planning to travel abroad.
Which genes are included in the EIEE panel?
The panel includes genes such as SCN1A, STXBP1, CDKL5, KCNQ2, KCNT1, SLC25A22, ARX, PCDH19, GABRA1, GABRB3, SLC2A1, and MECP2.
Can this test be done prenatally?
Yes, the test can be performed on amniotic fluid or chorionic villi samples for prenatal diagnosis, with appropriate counseling.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What does a positive result mean?
A positive result indicates a pathogenic variant in a gene associated with EIEE, confirming the genetic cause and aiding in management.
What if the result is negative?
A negative result does not rule out EIEE. Further testing or evaluation may be recommended by your doctor.
Are there any risks associated with the test?
For blood samples, risks are minimal. For prenatal samples, there is a small risk of complications, which will be explained by your doctor.
Will insurance cover the cost?
Insurance coverage varies. We recommend checking with your insurance provider. The test is not covered under government schemes currently.
How do I book this test?
You can book online through our website or call our customer care. Free home collection is available for online bookings.
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.

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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.

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