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GABRG2 Gene Dravet syndrome NGS Genetic Test

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GABRG2 Gene Dravet syndrome NGS Genetic Test

Short Name: GABRG2 Dravet NGS

Also known as: GABRG2 Gene Sequencing, GABRG2 Dravet Syndrome NGS, Dravet Syndrome Genetic Test, GABRG2 Epilepsy Genetic Test

GABRG2 Gene Dravet syndrome 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 will be delivered within 3 to 4 weeks after sample receiving at laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, children and adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect disease-causing variants in the GABRG2 gene in suspected Dravet syndrome/SMEI, confirm a clinical diagnosis, and enable informed management and genetic counselling.

Test Code
4021
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks after sample receiving at laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. The doctor may review clinical history and arrange a genetic counselling session before testing.

Method: Peripheral venipuncture / FTA card dried blood spot

Step 2

Laboratory Analysis

A small volume of blood is drawn from the arm, or a blood spot is placed on an FTA card if home collection is chosen. The process takes only a few minutes.

Step 3

Report Delivery

The sample is transported to DNA Labs India. No activity restrictions are required. Follow any instructions given by the collection team.

Timeline: Reports will be delivered within 3 to 4 weeks after sample receiving at laboratory.

Patient Instructions

1
Before the Test:No fasting needed. Genetic counseling is recommended.
2
During the Test:Sample collection is done by a trained phlebotomist or via FTA card blood spot.
3
After the Test:Your clinical report will be delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

To detect disease-causing variants in the GABRG2 gene in suspected Dravet syndrome/SMEI, confirm a clinical diagnosis, and enable informed management and genetic counselling.

How to Prepare

  • No fasting required.
  • EDTA whole blood / extracted DNA / FTA card blood spot is acceptable.
  • FTA card samples must be air-dried and stored in the provided packet.
  • Correct patient identification is mandatory on the sample and form.
  • For infants, heel-prick FTA collection may be used under clinical guidance.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test should be requested only after a thorough clinical assessment and pre-test genetic counselling. Early genetic diagnosis can guide seizure management and reproductive counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood in EDTA / one FTA card spot / extracted DNA as required
ContainerEDTA vacutainer / sterile DNA vial / FTA card
Collection MethodPeripheral venipuncture / FTA card dried blood spot

Sample Stability

Whole blood in EDTA: 24–48 hours at 2–8°C
Extracted DNA: 1 week at 2–8°C; long-term at -20°C
FTA card blood spot: room temperature (ambient) for transport and short-term storage
Sample Rejection Criteria:
  • Heparinized blood (can interfere with PCR steps)
  • Unlabelled or mislabelled samples
  • Clotted blood in EDTA tube
  • Sample leaking from the container
  • Insufficient DNA quantity after extraction

Understanding Your Results

The report should be interpreted by a clinical geneticist in the context of the patient's seizure history, neurological examination, family history and other investigations. The detection of a pathogenic or likely pathogenic variant in GABRG2 supports a genetic diagnosis of GABRG2-related Dravet syndrome.
📊

Consistent with a molecular diagnosis of GABRG2-related Dravet syndrome. Clinical correlation and genetic counselling advised.

Result type: Pathogenic variant detected

📊

Highly suggestive of a pathogenic effect. Further family studies may be helpful.

Result type: Likely pathogenic variant detected

📊

Cannot be classified as disease-causing or benign at this time. Additional testing of family members may assist classification.

Result type: Variant of uncertain significance detected

📊

No disease-causing GABRG2 variant was identified. Other genetic causes of Dravet syndrome should be considered.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

Consult your treating neurologist or geneticist if recurrent seizures or developmental concerns are present, if a report identifies a pathogenic variant, or if the result is uncertain and family segregation is advised.

Limitations

  • ⚠NGS may not detect large deletions, duplications or structural variants unless specifically included in the bioinformatics pipeline.
  • ⚠The analysis is limited to GABRG2 and does not include other Dravet syndrome genes such as SCN1A.
  • ⚠Low-level mosaicism may not be reliably detected by this NGS test.
  • ⚠A variant of uncertain significance may require further family testing to clarify its significance.

Risks & Considerations

  • ●Minimal physical risk associated with routine blood collection, such as slight pain or bruising from the needle site.
  • ●Psychological and familial impact of receiving a genetic diagnosis.
  • ●Potential implications for family members; genetic counselling is recommended.
  • ●No nutritional or fasting risks.

Interfering Factors

  • ●Maternal cell contamination in blood samples
  • ●DNA degradation or insufficient extracted DNA
  • ●Use of heparin as an anticoagulant
  • ●Sample mix-up or incorrect labelling

Frequently Asked Questions

What is the cost of the GABRG2 Dravet syndrome NGS genetic test?
The test costs INR 20,000 (Rs 20,000) at DNA Labs India. The price includes GABRG2 gene NGS analysis, raw data files and a conclusive clinical report. Free home sample collection is available for online bookings.
What is Dravet syndrome?
Dravet syndrome, also called Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare epilepsy syndrome that begins in the first year of life. It is associated with pathogenic variants in genes like SCN1A and GABRG2. It includes seizures, developmental delays, behavioral issues, sleep disturbances, balance problems and an increased risk of SUDEP.
How does a GABRG2 variant cause epilepsy?
GABRG2 encodes a subunit of the GABA-A receptor, a protein that helps inhibitory signaling in the brain. A disease-causing variant can reduce inhibitory neurotransmission, leading to excessive neuronal excitation and seizures.
Who should take this test?
It is considered when an infant or child has early-onset epilepsy suggestive of Dravet syndrome, unexplained seizures with developmental delay, or a family history of GABRG2-related epilepsy. The decision should be made after evaluation by a neurologist or clinical geneticist.
Which sample is required?
The test can be performed on 2-3 ml peripheral blood in an EDTA tube, extracted DNA, or one drop of blood applied onto an FTA card. FTA card collection is suitable for home collection.
Is fasting needed before sample collection?
No, fasting is not required. The sample can be collected any time of the day.
What is NGS technology?
NGS, or Next-Generation Sequencing, is a high-throughput method that sequences multiple regions of DNA simultaneously. It is used to read the coding regions of the GABRG2 gene in this test and can detect small nucleotide changes and small insertions/deletions.
What is the turnaround time?
The clinical report is usually issued within 3 to 4 weeks after the sample reaches the laboratory.
Why should I ask for raw data, FASTQ and VCF files?
Raw data, FASTQ and VCF files help another geneticist or laboratory perform independent reanalysis, confirm the variant calls, and interpret variants of uncertain significance at a later time. DNA Labs India shares these files with the report.
Can this test detect all types of GABRG2 mutations?
NGS-based gene sequencing can detect point variants and small insertions/deletions in the covered coding regions. Large deletions, duplications, repeat expansions or deep intronic changes may not be detected by this test.
Is genetic counseling recommended?
Yes. A genetic counselling session is part of the pre-test workup to document family history, create a pedigree, and discuss implications, risks and benefits of testing.
Does a negative result rule out Dravet syndrome?
No. A negative or not-detected result reduces the chance of a GABRG2-related cause but does not exclude Dravet syndrome because other genes such as SCN1A, mutations outside tested regions, or other genetic mechanisms can be responsible.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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