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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
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)
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
Laboratory Analysis
Blood sample is drawn from a vein in the arm. For amniotic fluid, a healthcare professional performs amniocentesis under ultrasound guidance.
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
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 Dr Pasupathy Arumugam — 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 Stability
- 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
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.
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
| Test | Early Infantile Epileptic Encephalopathy Gene Panel | Single Gene Testing (e.g., SCN1A) | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | Early Infantile Epileptic Encephalopathy Gene Panel | Targets 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?
What sample is required for the EIEE Gene Panel?
How long does it take to get the results?
Is a doctor's prescription required for this test?
Which genes are included in the EIEE panel?
Can this test be done prenatally?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
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