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GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic Test

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GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic Test

Short Name: GABRA1 EIEE19 NGS Genetic Test

GABRA1 Gene Early infantile epileptic encephalopathy type 19 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. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the GABRA1 gene responsible for early infantile epileptic encephalopathy type 19, aiding in diagnosis and management.

Test Code
1590
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Provide clinical history of the patient and undergo genetic counseling to draw a pedigree chart of affected family members.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and obtain informed consent. Provide detailed clinical history of the patient.
2
During the Test:Blood sample collection or submission of extracted DNA. The procedure is minimally invasive.
3
After the Test:Sample processing and analysis via NGS technology. Results are delivered after 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify mutations in the GABRA1 gene responsible for early infantile epileptic encephalopathy type 19, aiding in diagnosis and management.

How to Prepare

  • Blood sample or extracted DNA can be used for testing.
  • One drop of blood on an FTA card is acceptable for collection.
  • Ensure proper labeling and handling of samples.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through genetic testing is crucial for managing EIEE type 19 and guiding treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the GABRA1 gene, which are associated with EIEE type 19.
Positive result: Pathogenic mutation detected, confirming diagnosis of EIEE type 19. Consult a geneticist for management.
Negative result: No pathogenic variants detected. Clinical correlation is advised; consider other genetic or non-genetic causes.
Variant of uncertain significance (VUS): Further testing or family studies may be needed for clarification.
⚠️ When to Consult a Doctor:

If an infant shows symptoms such as seizures, developmental delays, or abnormal muscle tone, consult a neurologist or geneticist promptly.

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection.
  • ●Emotional impact of genetic results; genetic counseling is recommended.

Frequently Asked Questions

What is the GABRA1 Gene EIEE Type 19 NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the GABRA1 gene, which causes early infantile epileptic encephalopathy type 19, a rare disorder with seizures and developmental delays in infants.
Who should consider getting this test?
Infants showing symptoms like seizures, developmental delays, intellectual disability, or abnormal muscle tone, or those with a family history of EIEE type 19.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to identify genetic mutations in the GABRA1 gene.
What is the cost of the test in India?
The cost is approximately INR 20000, and DNA Labs India offers free home sample collection across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in many cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result confirms a mutation in the GABRA1 gene linked to EIEE type 19. A negative result means no pathogenic variant was detected, but clinical correlation is advised.
Is the test covered by insurance or government schemes?
Coverage varies; it is not typically covered by government schemes like PMJAY or CGHS. Check with private insurance providers.
What are the risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising. Genetic counseling is provided to address emotional and psychological aspects.
Can adults undergo this test?
The test is primarily for infants with EIEE type 19 symptoms, but it can be performed on individuals of any age if clinically indicated.
What preparation is needed before the test?
Provide clinical history and undergo genetic counseling. No fasting is required, and samples should be collected at ambient temperature.
How accurate is the test?
NGS technology is highly accurate for detecting genetic mutations, but interpretation should be done by a qualified geneticist or healthcare provider.
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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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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