CLCN2 Gene Epilepsy, idiopathic generalized type 11 NGS Genetic Test
Short Name: CLCN2 Epilepsy NGS Test
Also known as: CLCN2-Related Idiopathic Generalized Epilepsy, Idiopathic Generalized Epilepsy Type 11 Genetic Test, CLCN2 Gene Mutation Analysis
CLCN2 Gene Epilepsy, idiopathic generalized type 11 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 Turnaround time is 3 to 4 weeks from sample receipt at the laboratory. Delays may occur if sample quality is inadequate or if additional verification tests are needed.. 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 this test is to identify pathogenic variants in the CLCN2 gene that cause idiopathic generalized epilepsy type 11. The result confirms the clinical diagnosis, helps guide antiepileptic drug selection, enables assessment of recurrence risk for family members, and supports informed reproductive decisions.
- Test Code
- 4078
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Turnaround time is 3 to 4 weeks from sample receipt at the laboratory. Delays may occur if sample quality is inadequate or if additional verification tests are needed.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please provide a valid government photo ID and the reference number/order form. If you have had a bone marrow transplant, inform your genetic counselor before testing.
Method: Peripheral blood draw or FTA card blood spot
Laboratory Analysis
The blood sample is collected by an experienced phlebotomist using a sterile needle. Alternatively, a finger-prick blood spot on an FTA card or a sample of extracted DNA may be submitted.
Report Delivery
You can resume your normal activities immediately. The sample will be transported to the laboratory at optimal temperature. Report will be shared via email, WhatsApp, and patient portal within 3-4 weeks.
Timeline: Turnaround time is 3 to 4 weeks from sample receipt at the laboratory. Delays may occur if sample quality is inadequate or if additional verification tests are needed.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the CLCN2 gene that cause idiopathic generalized epilepsy type 11. The result confirms the clinical diagnosis, helps guide antiepileptic drug selection, enables assessment of recurrence risk for family members, and supports informed reproductive decisions.
How to Prepare
- Avoid clotting: ensure EDTA tube is inverted gently several times after draw
- If using FTA card, allow the blood spot to air dry completely before packing
- Label the sample with patient name and unique identifier
- Do not freeze whole blood for FTA card collection
- Store sample at room temperature away from direct sunlight until pickup
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of CLCN2-related epilepsy enables appropriate seizure management and informed family planning. This NGS test provides a definitive molecular answer in clinically suspected cases."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample (unless FTA card is submitted)
- Haemolysed blood in EDTA tube
- Insufficient sample quantity
- Tubes with expired anticoagulant or wrong preservative
- Unlabelled or incorrectly labelled samples
Understanding Your Results
Confirms the diagnosis of CLCN2 gene epilepsy, idiopathic generalized type 11. Indicates a genetic cause and allows predictive testing of at-risk family members.
A clinically significant mutation in CLCN2 was not identified. This does not rule out a genetic cause; additional genetic testing such as a comprehensive epilepsy panel may be considered.
A DNA change was identified that has not yet been classified. It is unclear if it causes disease. The laboratory may offer further tests such as familial segregation, RNA analysis or protein studies.
Consult your referring neurologist or geneticist if you have experienced seizures, uncontrolled episodes of unconsciousness, jerking movements, or after receiving a positive, negative, or uncertain genetic result. A clinical geneticist can help with family counseling and risk assessment.
Limitations
- ⚠This test only detects mutations in the CLCN2 gene; other genetic causes of epilepsy are not covered
- ⚠Deep intronic regions, promoter regions, and large exon deletions/duplications may not be detected by standard NGS
- ⚠Variants of uncertain significance (VUS) may be reported and require further familial segregation analysis
- ⚠A negative result does not exclude a diagnosis of epilepsy due to non-genetic causes or mutations in other genes
- ⚠Genetic counseling is recommended to interpret all results accurately
Risks & Considerations
- ●There is minimal risk of bleeding, bruising, or infection at the blood draw site
- ●No long-term risks are associated with this genetic test
- ●Psychological impact of a positive result may include anxiety or distress
- ●Uncertain results (VUS) may cause confusion and need further counselling
Interfering Factors
- ●Patient history of allogeneic bone marrow or stem cell transplant may cause false results due to donor DNA
- ●Maternal cell contamination in fetal or cord blood samples
- ●Sample degradation due to prolonged storage at elevated temperatures
- ●Contamination with polymerase chain reaction inhibitors or exogenous DNA
- ●Recent blood transfusion with donor leukocytes (in rare cases)
Frequently Asked Questions
What is the CLCN2 gene and why is it important in epilepsy?
What is the cost of the CLCN2 gene epilepsy NGS test?
How is the CLCN2 Gene Epilepsy NGS test performed?
Which sample is required for this test?
How long does it take to get the report?
Does this test detect all epilepsy-causing mutations?
What does a positive test result mean?
What does a negative test result mean?
Is a doctor's prescription required for this genetic test?
Is home sample collection available?
How accurate is this NGS genetic test?
Who should consider taking this 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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