CHD2 Gene Epileptic encephalopathy, childhood-onset NGS Genetic Test
Short Name: CHD2 NGS Test
Also known as: CHD2 Gene Mutation Analysis, CHD2 Epileptic Encephalopathy NGS Panel, Childhood-Onset Epileptic Encephalopathy Gene Test
CHD2 Gene Epileptic encephalopathy, childhood-onset NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or Dried Blood Spot on FTA Card samples. Results in 3 to 4 Weeks hours. 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 NGS genetic test is to detect pathogenic variants in the CHD2 gene that may cause childhood-onset epileptic encephalopathy. This helps in confirming the clinical diagnosis, guiding treatment options, and enabling informed family planning.
- Test Code
- 4087
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or Dried Blood Spot on FTA Card
- Result Time
- 3 to 4 Weeks hours
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counseling session is mandatory before the test to draw a family pedigree chart and explain the benefits and limitations of the test.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample from a vein in your arm. Alternatively, you may provide a few drops of blood on an FTA card or a purified DNA sample.
Report Delivery
There are no restrictions after sample collection. You can continue your daily activities. The sample will be securely transported to the laboratory for NGS analysis.
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the CHD2 gene that may cause childhood-onset epileptic encephalopathy. This helps in confirming the clinical diagnosis, guiding treatment options, and enabling informed family planning.
How to Prepare
- Avoid eating before sample collection if instructed by your doctor (not required for this test).
- Inform your doctor about any anticoagulant medications.
- Ensure the sample is labeled with your full name and unique ID.
- For FTA card, allow the blood spot to air dry completely before packing.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"CHD2-related epileptic encephalopathy is a complex condition that often presents with early-onset seizures and developmental regression. Genetic testing not only confirms the diagnosis but also guides seizure management and long-term developmental support. As a pediatric neurologist, I recommend early testing in children with unexplained epilepsy and developmental delay."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolysed blood sample
- Incorrectly labeled sample
- Insufficient sample quantity
- Sample received in broken container
Understanding Your Results
If you or your child has recurrent unexplained seizures, developmental regression, speech delay, or a family history of early-childhood epilepsy, consult a pediatric neurologist or clinical geneticist for evaluation and testing.
Limitations
- ⚠This NGS test analyzes exonic regions and splice sites of the CHD2 gene only.
- ⚠Large structural rearrangements, deep intronic mutations, and trinucleotide repeat expansions may not be detected.
- ⚠A negative result does not exclude all genetic causes of epileptic encephalopathy.
Risks & Considerations
- ●There are no significant physical risks associated with blood collection.
- ●Possible minor bruising or discomfort at the puncture site.
- ●Risk of psychological impact from receiving unexpected genetic results.
Interfering Factors
- ●Poor DNA quality or quantity
- ●Maternal cell contamination
- ●Incomplete sequence coverage
- ●Recent blood transfusion
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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.
Your Data Privacy
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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