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GABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic Test

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GABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic Test

Short Name: GABRA1 NGS Genetic Test

Also known as: Childhood Absence Epilepsy Type 4 Genetic Test, GABRA1 Gene Mutation Analysis, GABRA1 NGS Sequencing, Epilepsy Susceptibility Genetic Test

GABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-generation sequencing (NGS), Sanger sequencing verification if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The test report is generally delivered within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to detect sequence variants in the GABRA1 gene that may predispose to childhood absence epilepsy type 4. It may be used to confirm a clinical suspicion, guide management, inform inheritance risk, and help at-risk family members understand their likelihood of developing or transmitting the condition.

Test Code
4068
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The test report is generally delivered within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-generation sequencing (NGS), Sanger sequencing verification if required
Step 1

Sample Collection

A Genetic Counselling session is recommended to draw a pedigree chart of family members affected with GABRA1 gene epilepsy. The referring physician should provide a clinical history and the test requisition form. No fasting is required.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood sample collection is performed by a trained phlebotomist using an aseptic technique. For FTA card, a drop of blood is applied to the designated spot and allowed to air dry.

Step 3

Report Delivery

No specific precautions are required after blood collection. The sample should be transported to the laboratory at ambient temperature.

Timeline: The test report is generally delivered within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Genetic counselling session is recommended before testing to understand the implications, limitations, and possible outcomes. The physician will review family history and obtain informed consent.
2
During the Test:A blood sample is collected. The sample will be sent to the laboratory for DNA extraction and next-generation sequencing.
3
After the Test:Your clinician will explain the report and its implications. You may be offered additional genetic counselling and family member testing if a pathogenic variant is identified.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect sequence variants in the GABRA1 gene that may predispose to childhood absence epilepsy type 4. It may be used to confirm a clinical suspicion, guide management, inform inheritance risk, and help at-risk family members understand their likelihood of developing or transmitting the condition.

How to Prepare

  • Use EDTA-containing vacutainer for whole blood
  • For FTA card, ensure sufficient blood spot and air dry before packing
  • Label the sample with patient name, UID, and collection date
  • Transport sample to laboratory at room temperature
  • Avoid extreme heat or freezing of the FTA card

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for childhood absence epilepsy should be offered after detailed clinical evaluation and genetic counselling. A positive GABRA1 variant can confirm aetiology; however, all results must be interpreted in the context of the child's seizure history and EEG findings."

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 peripheral blood or as required for DNA extraction
ContainerEDTA vacutainer or FTA card / DNA sample in appropriate buffer
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Whole blood at ambient temperature
Extracted DNA stored at 2-8°C
FTA card at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labelled sample
  • Sample received after prolonged transit without proper storage
  • FTA card with insufficient blood spot

Understanding Your Results

The clinical report should be interpreted by a clinical geneticist or neurologist in the context of the patient’s clinical history, family history, and EEG findings. Genotype-phenotype correlation is not always straightforward, and variants of uncertain significance require cautious counselling.
📊

Pathogenic or likely pathogenic variant in GABRA1

Supports the diagnosis of GABRA1-related childhood absence epilepsy type 4 susceptibility. Genetic counselling is advised for family members.

📊

Negative / no variant detected

Does not exclude a genetic or non-genetic cause of absence epilepsy. Further diagnostic workup may be considered based on clinical judgement.

📊

Variant of uncertain significance (VUS)

The clinical significance is unknown. Additional segregation, in-silico tools, or functional studies may be needed before definitive clinical use.

⚠️ When to Consult a Doctor:

Consult a neurologist or paediatric neurologist if the patient has recurrent staring spells, falls, or unusual seizure activity, or if a family member has been diagnosed with a GABRA1-related epilepsy. Always seek post-test genetic counselling after receiving this genetic test result.

Limitations

  • ⚠NGS may not detect all mutation types such as large structural rearrangements or trinucleotide repeat expansions
  • ⚠Pathogenic variants in genes other than GABRA1 are not evaluated by this single-gene test
  • ⚠A negative result does not exclude a genetic cause of epilepsy
  • ⚠Variants of uncertain significance (VUS) may require additional familial segregation studies
  • ⚠Test is not a substitute for clinical diagnosis by a neurologist

Risks & Considerations

  • ●No major medical risks from blood sampling, but mild bruising or discomfort at the puncture site is possible
  • ●Psychological impact of genetic results
  • ●Potential identification of a variant of uncertain significance causing anxiety
  • ●Minor chance of false negative due to technical limitations

Interfering Factors

  • ●Insufficient or degraded DNA sample
  • ●Maternal cell contamination in blood samples
  • ●Presence of homologous pseudogenes or complex genomic regions
  • ●Low sequencing coverage at certain loci can limit detection
  • ●Rare deep intronic variants not covered by standard exonic analysis
  • ●Somatic mosaicism may be below detection threshold

Compare With Similar Tests

TestGABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic TestGABRA1 Single-Gene NGS TestComprehensive Epilepsy NGS PanelChromosomal Microarray (CMA)
ComparisonGABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic Test

Frequently Asked Questions

What is the cost of the GABRA1 gene epilepsy childhood absence type 4 NGS genetic test?
The test costs INR 20,000 in India. DNA Labs India offers free home sample collection at this price and provides a definitive clinical report along with raw data, FASTQ and VCF files.
What does GABRA1 gene mutation cause?
Pathogenic variants in the GABRA1 gene are associated with childhood absence epilepsy type 4. The gene encodes the alpha-1 subunit of the GABAA receptor, which is important for inhibitory neurotransmission in the brain.
Which sample is needed for this NGS genetic test?
The preferred samples are peripheral blood in an EDTA vacutainer, extracted DNA, or a single drop of blood on an FTA card. The laboratory accepts all these sample types.
Is fasting required before the test?
No, fasting is not required for the GABRA1 NGS genetic test. You can eat and drink normally before sample collection unless the referring doctor advises otherwise.
How long will the GABRA1 gene test report take?
The turnaround time is 3 to 4 weeks after the laboratory receives the sample. Reports are shared online and can be downloaded from the patient portal.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant in the GABRA1 gene was found. It supports the diagnosis of GABRA1-related susceptibility to childhood absence epilepsy type 4; however, the result should be interpreted with clinical and EEG findings.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic variant whose association with disease is not yet known. It is not directly reported as positive or negative. Additional testing of family members may be required to understand its clinical relevance.
Will DNA Labs India provide raw data and VCF files?
Yes, DNA Labs India is transparent in genetic testing. Along with the clinical report, raw data, FASTQ and VCF files are shared for the GABRA1 NGS genetic test.
Can this test be done on children?
Yes, this test is clinically relevant for children who present with staring spells and features of childhood absence epilepsy. Parental consent and a clinician’s referral are required for testing minors.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in over 200 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, and many other locations.
Does a negative result exclude epilepsy?
A negative result does not exclude a genetic or non-genetic cause of epilepsy. It only indicates that no clinically significant variant was detected in the GABRA1 gene by this NGS assay.
What treatment is available for GABRA1-related childhood absence epilepsy?
Management is generally symptomatic and may include antiepileptic medications such as valproic acid or ethosuximide. Treatment decisions should always be made by a neurologist or paediatric neurologist.
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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