GABRB3 Gene Epilepsy, childhood absence type 5 NGS Genetic Test
Short Name: GABRB3 NGS Genetic Test
Also known as: GABRB3 Gene Childhood Absence Epilepsy Type 5 Test, GABRB3 Mutation Analysis, NGS Genetic Test for Childhood Absence Type 5 Epilepsy
GABRB3 Gene Epilepsy, childhood absence type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after the laboratory receives the sample.. 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 NGS test is to identify pathogenic or likely pathogenic variants in the GABRB3 gene that are associated with Childhood Absence Type 5 epilepsy. It helps confirm clinical diagnosis, guide management, and inform family members about recurrence risk.
- Test Code
- 4070
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after the laboratory receives the sample.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No fasting required. A genetic counseling session is recommended before testing. Bring family history and clinical records related to seizures or epilepsy.
Method: Blood draw / FTA card spotting
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For home collection, one drop of blood may be collected on an FTA card.
Report Delivery
No special precautions are needed. You can resume normal activities immediately after sample collection.
Timeline: 3 to 4 weeks after the laboratory receives the sample.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the GABRB3 gene that are associated with Childhood Absence Type 5 epilepsy. It helps confirm clinical diagnosis, guide management, and inform family members about recurrence risk.
How to Prepare
- Blood or extracted DNA sample is accepted
- One drop of blood can be collected on an FTA card
- Clearly label the sample tube or FTA card
- Clinical records and family history are recommended
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test should be requested only after clinical evaluation by a neurologist or clinical geneticist. Results are interpreted using ACMG guidelines and must be correlated with the patient's seizure phenotype and family pedigree."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient FTA card blood spot
- Mislabeled or unlabelled sample
- Sample received in expired or wrong collection tube
Understanding Your Results
Pathogenic or likely pathogenic variant in GABRB3 gene
Supports a molecular diagnosis of Childhood Absence Type 5 epilepsy and may guide treatment and family testing.
Variant of uncertain significance (VUS)
Insufficient evidence to classify as disease-causing or benign; further testing in family members may help.
No pathogenic variant detected
A GABRB3 gene-related cause is not identified; a different genetic cause should be considered.
If the patient has repeated staring spells, sudden unresponsiveness, or absence seizures, consult a neurologist or clinical geneticist. Genetic counseling before and after testing is recommended.
Limitations
- ⚠This test does not detect all types of genomic abnormalities, such as large structural variants or repeat expansions.
- ⚠Some variants may be classified as variants of uncertain significance.
- ⚠A negative result does not exclude a genetic or non-genetic cause of epilepsy.
- ⚠Test results should be interpreted alongside EEG and clinical findings by a clinical geneticist.
Risks & Considerations
- ●Minimal discomfort at blood draw site
- ●Slight bruising
- ●Dizziness or feeling faint during blood collection
Interfering Factors
- ●Insufficient quantity or quality of DNA
- ●Presence of a variant outside the covered region
- ●Mosaicism with low allele fraction may be missed
- ●Contamination during sample collection or processing
Compare With Similar Tests
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| Comparison | GABRB3 Gene Epilepsy, childhood absence type 5 NGS Genetic Test |
Frequently Asked Questions
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