GRIN2B Gene Early infantile epileptic encephalopathy type 27 NGS Genetic Test
Short Name: GRIN2B Gene EIEE Type 27 Test
Also known as: EIEE type 27, GRIN2B-related encephalopathy, GRIN2B disorder
GRIN2B Gene Early infantile epileptic encephalopathy type 27 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 3 to 4 weeks after sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic Test is to confirm the diagnosis of EIEE27 by identifying pathogenic mutations in the GRIN2B gene. It aids in differentiating this condition from other epileptic encephalopathies, guiding appropriate therapeutic interventions, and providing genetic counselling for affected families. The test supports early intervention, which can improve management of seizures and developmental outcomes.
- Test Code
- 1603
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counselling session recommended to understand the test and draw a pedigree chart of affected family members.
Method: Venipuncture or FTA Card prick
Laboratory Analysis
Blood sample drawn via venipuncture or FTA Card collection in a clinical or home setting.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Follow any additional instructions from the healthcare provider.
Timeline: 3 to 4 weeks after sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic Test is to confirm the diagnosis of EIEE27 by identifying pathogenic mutations in the GRIN2B gene. It aids in differentiating this condition from other epileptic encephalopathies, guiding appropriate therapeutic interventions, and providing genetic counselling for affected families. The test supports early intervention, which can improve management of seizures and developmental outcomes.
How to Prepare
- No fasting required
- Bring prescription and valid ID
- Inform about any medications or medical history
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for confirming diagnosis and guiding treatment for infants with suspected GRIN2B-related disorders, aiding in personalized care and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or identification
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of EIEE27; genetic counselling and management advised.
No pathogenic variant detected
EIEE27 unlikely; consider other diagnoses or additional genetic tests.
Variant of uncertain significance
Requires further evaluation and family studies.
Consult a neurologist or geneticist if your child shows symptoms like seizures, developmental delays, or if you have a family history of the disorder. Seek immediate medical attention for uncontrolled seizures.
Limitations
- ⚠Detects only mutations in the GRIN2B gene
- ⚠May not identify all variant types (e.g., large deletions)
- ⚠Results require interpretation by a genetic specialist
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Emotional impact of results
Interfering Factors
- ●Sample contamination
- ●DNA degradation
- ●Incorrect sample handling
Compare With Similar Tests
| Test | GRIN2B Gene Early infantile epileptic encephalopathy type 27 NGS Genetic Test | SCN1A Gene Sequencing Test | Epilepsy Genetic Panel | Whole Exome Sequencing | Chromosomal Microarray Analysis |
|---|---|---|---|---|---|
| Comparison | GRIN2B Gene Early infantile epileptic encephalopathy type 27 NGS Genetic Test |
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