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GABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic Test

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GABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic Test

Short Name: GABRD Gene Epilepsy NGS Genetic Test

Also known as: GABRD-related epilepsy genetic test, Idiopathic generalized epilepsy type 10 NGS panel, GABRD gene mutation analysis

GABRD Gene Epilepsy, idiopathic generalized type 10 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 generally available within 3 to 4 weeks after the sample reaches the laboratory and meets acceptance criteria. Urgent cases can be processed with prior request.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to identify pathogenic variants in the GABRD gene that are associated with idiopathic generalized epilepsy type 10. Testing confirms the clinical diagnosis, informs prognosis, supports treatment decisions (including anti-seizure medication selection), and enables accurate genetic counseling for the patient and family members.

Test Code
4075
ICD Code
G40.3
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory and meets acceptance criteria. Urgent cases can be processed with prior request.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with GABRD gene epilepsy are needed before the test.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A small blood sample is collected from the arm vein or a few drops of blood on an FTA card. The procedure is simple and non-invasive.

Step 3

Report Delivery

There are no specific restrictions after sample collection. The sample will be transported to the laboratory at ambient temperature for FTA cards or under cold conditions for blood.

Timeline: Reports are generally available within 3 to 4 weeks after the sample reaches the laboratory and meets acceptance criteria. Urgent cases can be processed with prior request.

Patient Instructions

1
Before the Test:Before the test, a doctor or genetic counselor will explain the purpose, benefits, limitations, and possible outcomes. A family pedigree will be drawn to assess the inheritance pattern. No fasting is required. If the patient is on anti-seizure medication, the medication should be continued unless advised otherwise.
2
During the Test:During the test, a healthcare professional will collect a small sample of venous blood or a drop of blood onto an FTA card. The procedure lasts less than 5 minutes and is generally painless.
3
After the Test:After collection, the sample is sent to the laboratory. Results are typically ready in 3 to 4 weeks. The referring physician or genetic counselor will discuss the results and suggest next steps.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the GABRD gene that are associated with idiopathic generalized epilepsy type 10. Testing confirms the clinical diagnosis, informs prognosis, supports treatment decisions (including anti-seizure medication selection), and enables accurate genetic counseling for the patient and family members.

How to Prepare

  • No fasting is required.
  • Please bring the prescription or clinical history.
  • A genetic counseling session will be conducted before the test to draw a family pedigree.
  • Blood samples should be collected in an EDTA tube; FTA card samples can be taken by a simple finger prick.
  • Ensure correct labeling of the patient's name and date of birth.

Doctor's Notes

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

"Genetic testing for GABRD-related epilepsy can provide a confirmatory diagnosis and enable early intervention, seizure management, and informed family counseling. For individuals and families with a history of idiopathic generalized epilepsy, preconception and neurological counseling are recommended."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or FTA card spot
ContainerEDTA tube or FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

Sample Rejection Criteria:
  • Clotted or hemolyzed whole blood sample
  • Insufficient quantity of blood or DNA
  • Sample without proper labeling or consent form
  • FTA card with insufficient blood spots
  • Sample contaminated or exposed to extreme temperatures

Understanding Your Results

The genetic test report is interpreted by a clinical geneticist in the context of the patient's clinical presentation, EEG, imaging, and family history. Pathogenic or likely pathogenic variants in the GABRD gene confirm the diagnosis of idiopathic generalized epilepsy type 10. Variants of uncertain significance (VUS) are reported and may require further segregation analysis.
📊

Confirms the clinical diagnosis of GABRD-related epilepsy (IGE type 10). Recommend genetic counseling, family testing, and personalized treatment planning.

📊

Does not eliminate the possibility of GABRD gene involvement; other genetic or non-genetic causes should be considered. Further testing such as a comprehensive epilepsy panel may be recommended.

📊

The variant cannot be classified as pathogenic or benign at this time. Additional family studies and functional evidence may be needed to clarify the clinical significance.

⚠️ When to Consult a Doctor:

If you or a family member experience recurrent seizures, unexplained loss of consciousness, or involuntary movements, consult a neurologist immediately. A clinical evaluation with EEG and neuroimaging is essential. If epilepsy is suspected to be genetic in origin, ask your neurologist about GABRD gene NGS testing and genetic counseling.

Limitations

  • NGS sequencing may not detect large gene deletions/duplications, repeat expansions, or variants in deep intronic/non-coding regulatory regions.
  • A negative result does not completely rule out a genetic cause; other genes or acquired causes should be considered.
  • The clinical significance of some variants may be uncertain (VUS), requiring further family studies.
  • The test is specific to the GABRD gene and does not evaluate other epilepsy-related genes.

Risks & Considerations

  • Minimal pain or bruising at the blood draw site
  • Rare risk of infection or excessive bleeding
  • No direct risks from the genetic test itself, but potential psychological implications of result disclosure

Interfering Factors

  • Contamination of blood sample with foreign DNA
  • DNA degradation due to improper storage or shipping
  • Presence of maternal cell contamination in fetal samples
  • Low DNA yield from FTA card due to insufficient sample
  • Prior bone marrow transplantation may affect variant detection in blood

Compare With Similar Tests

TestGABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic TestGABRD Gene Single Gene NGS TestComprehensive Epilepsy NGS PanelChromosomal Microarray (CMA)Whole Exome Sequencing (WES)
ComparisonGABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic Test

Frequently Asked Questions

What is the GABRD gene epilepsy condition?
GABRD gene epilepsy refers to a type of idiopathic generalized epilepsy (IGE type 10) caused by mutations in the GABRD gene. This gene encodes the delta subunit of the GABA-A receptor, and its dysfunction increases neuronal excitability, leading to recurrent generalised seizures.
How is the GABRD NGS genetic test performed?
The test uses Next-Generation Sequencing (NGS) technology to analyze the coding regions and exon-intron boundaries of the GABRD gene. It requires a small blood sample in an EDTA tube or a few drops on an FTA card. No fasting is needed.
What is the cost of the GABRD gene epilepsy NGS test in India?
At DNA Labs India, the cost is a special discounted price of INR 20,000. Free home sample collection is provided across more than 200 cities in India.
How long does the test result take?
The turnaround time is 3 to 4 weeks from the date the sample is received by the laboratory. Reports are shared on the online portal, by email, and on WhatsApp.
Do I need to fast before the test?
No, fasting is not required. You can eat and drink normally before the sample collection.
What sample types are accepted for this test?
We accept whole blood in EDTA tube, extracted DNA, or one drop of blood on an FTA card. All sample types should be properly labeled with patient details.
Will I receive raw data files with the report?
Yes, DNA Labs India is transparent and will share raw data files including FASTQ and VCF files along with the conclusive clinical report. This helps in independent verification and research.
What is the difference between a pathogenic variant and a VUS?
A pathogenic variant is known to cause the disease, while a VUS (variant of uncertain significance) is a genetic change whose impact on health is not yet clearly known. VUS results may require additional family studies.
Can this test detect all causes of genetic epilepsy?
No, this test is specific to the GABRD gene. It will not detect mutations in other epilepsy-related genes. If GABRD is negative and clinical suspicion remains high, a comprehensive epilepsy panel or whole exome sequencing may be considered.
Is genetic counseling required before this test?
Yes, pre-test genetic counseling is recommended and, at DNA Labs India, a counseling session to draw a pedigree chart is part of the pretest procedure. This helps understand the inheritance pattern and the significance of the test.
Will the test work for family members?
Yes, the same test can be used for family members of an affected individual to determine carrier status or risk of developing epilepsy. Genetic counseling is essential to interpret the results in a family context.
What if my sample gets rejected?
If the sample is clotted, hemolyzed, insufficiently labeled, or has inadequate quantity, it will be rejected and a fresh sample will be requested. DNA Labs India will inform you promptly if a redraw is needed.
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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