GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic Test
Short Name: GABRG2 NGS Genetic Test
Also known as: GABRG2 Gene Sequencing, GEFS+ Type 3 Genetic Test, GABRG2 Mutation Analysis, Next Generation Sequencing for GABRG2 Gene
GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 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 usually available in 3 to 4 weeks after the sample is received by 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
To detect pathogenic variants in the GABRG2 gene in individuals with clinical features of generalized epilepsy with febrile seizures plus type 3 (GEFS+ type 3). The test aids molecular diagnosis, family risk assessment and genetic counselling.
- Test Code
- 4106
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available in 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Fasting is not needed. A genetic counselling session is recommended before the test to draw a three-generation pedigree and discuss the implications of positive, negative, or uncertain results.
Method: Blood sample / FTA card dried blood spot
Laboratory Analysis
For a blood sample, a small volume of blood is taken from a vein in the arm using sterile technique. If an FTA card is used, one drop of blood is applied to the marked circle and allowed to air dry.
Report Delivery
The sample is labelled and transported to the laboratory under appropriate conditions. Patients can resume normal activities immediately after sample collection.
Timeline: Reports are usually available in 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic variants in the GABRG2 gene in individuals with clinical features of generalized epilepsy with febrile seizures plus type 3 (GEFS+ type 3). The test aids molecular diagnosis, family risk assessment and genetic counselling.
How to Prepare
- Use an EDTA tube for whole blood sample
- Do not freeze whole blood
- For FTA card, apply one drop of blood on the marked circle and allow to air dry
- Label the sample clearly with the patient's name and unique ID
- Transport the sample to the laboratory within the recommended time
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A positive GABRG2 result helps explain the seizure syndrome and enables family counselling. However, a negative result does not end the diagnostic journey; it should guide a broader evaluation and discussion of genetic testing options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient sample quantity
- Sample received in incorrect container
- Mislabeled sample
- Sample leaking in transit
Understanding Your Results
No pathogenic variant detected
No disease-causing alteration was identified in the coding regions and splice sites of GABRG2. This does not rule out GEFS+ because other genes may be involved.
Pathogenic or likely pathogenic variant detected
A disease-causing variant was identified. This supports a molecular diagnosis of GEFS+ type 3 and allows targeted testing of at-risk family members.
Variant of uncertain significance (VUS)
A genetic change was found, but its clinical significance is uncertain. Additional family studies and clinical correlation are needed before using this result for diagnosis.
If a child or adult has recurrent seizures triggered by fever, additional seizure types, developmental delay, or a family history of GEFS+, they should consult a neurologist or clinical geneticist for evaluation and genetic counselling.
Limitations
- ⚠NGS targets the coding exons and splice sites of GABRG2; it may not detect deep intronic mutations, large structural rearrangements, or repeat expansions.
- ⚠A negative result does not exclude GEFS+ type 3 because the disorder may be caused by variants in other genes.
- ⚠A variant of uncertain significance requires additional family studies and clinical correlation.
- ⚠This test is not intended for asymptomatic individuals without a clinical indication.
Risks & Considerations
- ●Minimal pain or bruising at the venipuncture site
- ●Rare local infection at the blood draw site
- ●No fasting or sedation required
Interfering Factors
- ●DNA degradation due to prolonged storage or repeated freezing and thawing
- ●PCR inhibitors contaminating the DNA sample
- ●Maternal cell contamination in blood samples from young infants
- ●Low sequencing coverage in GC-rich regions may reduce sensitivity
- ●Improper sample collection or transport
Compare With Similar Tests
| Test | GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic Test |
Frequently Asked Questions
What is the GABRG2 gene NGS genetic test?
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