Benign Infantile Epilepsy Gene Panel Test
Short Name: BIE Gene Panel
Also known as: Benign Familial Infantile Epilepsy Panel, BFIE Gene Panel, Infantile Seizure Gene Panel
Benign Infantile Epilepsy 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 laboratory.. 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 this gene panel is to identify pathogenic variants in genes known to cause benign infantile epilepsy. It helps in confirming a clinical diagnosis, assessing recurrence risk, and enabling informed reproductive decisions. The test also assists in distinguishing BIE from other more severe epilepsy syndromes, thereby avoiding aggressive treatments.
- Test Code
- 6046
- CPT Code
- 81408
- ICD Code
- G40.0
- 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 laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. A doctor's prescription is recommended. For prenatal samples, follow the referring physician's instructions.
Method: Venipuncture or as per specimen
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For amniotic fluid or CVS, the procedure is performed by a specialist.
Report Delivery
No specific aftercare needed. For blood sample, apply pressure at the puncture site. For prenatal, follow the physician's advice.
Timeline: Reports are typically available within 4-6 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this gene panel is to identify pathogenic variants in genes known to cause benign infantile epilepsy. It helps in confirming a clinical diagnosis, assessing recurrence risk, and enabling informed reproductive decisions. The test also assists in distinguishing BIE from other more severe epilepsy syndromes, thereby avoiding aggressive treatments.
How to Prepare
- Use EDTA vacutainer for blood sample
- For amniotic fluid, use sterile container
- For chorionic villi, use sterile container with normal saline
- Transport samples at cool pack (2-8°C) if delay expected
- Do not freeze blood samples
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of benign infantile epilepsy helps avoid unnecessary treatments and provides reassurance to families. This panel covers all known genes associated with BIE, enabling precise management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Incorrect container
- Sample not labeled properly
- Sample received after prolonged transit without proper temperature
Understanding Your Results
Positive
Pathogenic variant detected. Confirms genetic cause of BIE. Genetic counseling recommended.
Negative
No pathogenic variants detected in the analyzed genes. BIE may still be present due to other genetic or non-genetic causes.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unclear. Further testing of family members may be needed.
Consult a pediatric neurologist or clinical geneticist if your child has recurrent seizures, if there is a family history of epilepsy, or if you have concerns about your child's development.
Limitations
- ⚠This panel does not detect all possible genetic causes of infantile epilepsy
- ⚠Negative result does not exclude a genetic cause
- ⚠Variant interpretation may require parental testing
- ⚠Not intended for diagnosis of other epilepsy syndromes
Risks & Considerations
- ●Blood draw: minimal risk of bruising or infection
- ●Prenatal procedures: small risk of miscarriage or infection (discuss with your doctor)
Interfering Factors
- ●Contamination of sample with maternal cells in prenatal specimens
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by NGS
- ●Variant of uncertain significance (VUS) may require further analysis
Compare With Similar Tests
| Test | Benign Infantile Epilepsy Gene Panel | Comprehensive Epilepsy Panel | Neonatal Epilepsy Panel |
|---|---|---|---|
| Comparison | Benign Infantile Epilepsy Gene Panel |
Frequently Asked Questions
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