GRIN2D Gene Early infantile epileptic encephalopathy type 46 NGS Genetic Test
Short Name: GRIN2D EIEE46 NGS Test
Also known as: EIEE46, GRIN2D Encephalopathy, GRIN2D-Related Epileptic Encephalopathy
GRIN2D Gene Early infantile epileptic encephalopathy type 46 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 Reports are typically available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the GRIN2D gene that cause Early Infantile Epileptic Encephalopathy Type 46. It is used to confirm a clinical diagnosis, guide treatment decisions, and provide information for genetic counseling and recurrence-risk assessment.
- Test Code
- 4033
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counseling session is required to draw a pedigree chart of family members affected with the disease. No fasting is required.
Method: Venipuncture or heel prick, or FTA card spot
Laboratory Analysis
A blood sample is drawn from a vein in the arm. Alternatively, a few drops of blood may be collected on an FTA card.
Report Delivery
No specific post-collection restrictions. The sample is sent to the laboratory for processing.
Timeline: Reports are typically available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the GRIN2D gene that cause Early Infantile Epileptic Encephalopathy Type 46. It is used to confirm a clinical diagnosis, guide treatment decisions, and provide information for genetic counseling and recurrence-risk assessment.
How to Prepare
- Provide a valid ID and relevant clinical records
- Informed consent may be required for genetic testing
- Family history / pedigree chart is needed for genetic counseling
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis via genetic testing can significantly improve seizure management and allow tailored treatment in EIEE46. NGS-based analysis is a reliable method to detect GRIN2D mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed blood samples
- Insufficient sample quantity
- Improperly labeled samples
- Condensation or moisture on FTA card
Understanding Your Results
Positive / Pathogenic variant detected
A pathogenic variant was found in the GRIN2D gene, confirming the diagnosis of EIEE46. Genetic counseling is recommended.
Negative / No pathogenic variant detected
No clinically significant variant was found. The clinical diagnosis may need to be reconsidered.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Additional testing or familial segregation analysis may be needed.
Consult a pediatric neurologist if your child has recurrent seizures, developmental delay, abnormal muscle movements, feeding or swallowing issues, or abnormal EEG findings.
Limitations
- ⚠This NGS test detects single nucleotide variants and small insertions/deletions in the GRIN2D gene
- ⚠Large gene rearrangements and deep intronic mutations may not be detected by this test
- ⚠Results should be interpreted by a qualified clinical geneticist in the context of clinical findings
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Slight bleeding or dizziness
- ●No major side effects are associated with this test
Interfering Factors
- ●Poor DNA quality or low DNA concentration may interfere with NGS analysis
- ●Contamination of sample can lead to inaccurate results
- ●Incorrect sample labeling or transportation may compromise the test
Frequently Asked Questions
What is Early Infantile Epileptic Encephalopathy Type 46?
What is the role of the GRIN2D gene?
What symptoms are seen in EIEE46?
How is the GRIN2D NGS genetic test performed?
What is the cost of the GRIN2D NGS genetic test at DNA Labs India?
What sample type is required for the test?
How long does it take to receive the reports?
Is genetic counseling part of the test?
Is home sample collection available?
Can this test detect all types of GRIN2D mutations?
Who should consider taking this genetic test?
Are there any risks associated with the test?
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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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