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GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic Test

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GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic Test

Short Name: GNAO1 EIEE17 NGS Test

Also known as: EIEE17 Genetic Test, GNAO1 Gene Mutation Analysis

GNAO1 Gene Early infantile epileptic encephalopathy type 17 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 and Pediatric🏠 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

The purpose of this test is to identify mutations in the GNAO1 gene through Next-Generation Sequencing (NGS) to confirm a diagnosis of Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) and guide clinical management.

Test Code
1597
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

No specific preparation required, but provide clinical history and family pedigree information.

Method: Blood Draw or FTA Card Collection

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist or one drop of blood on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site; avoid heavy lifting for a few hours.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree during genetic counseling session.
2
During the Test:A blood sample or FTA card sample is collected for NGS analysis in the lab.
3
After the Test:Results are delivered in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the GNAO1 gene through Next-Generation Sequencing (NGS) to confirm a diagnosis of Early Infantile Epileptic Encephalopathy Type 17 (EIEE17) and guide clinical management.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Follow aseptic techniques to prevent contamination
  • For FTA card, air-dry the blood spot before packaging

Doctor's Notes

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

"Genetic testing for EIEE17 is essential for accurate diagnosis and management. Consult a neurologist for evaluation if your child shows symptoms like seizures or developmental delays."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or FTA Card Collection

Sample Stability

Blood samples: Stable for 7 days at room temperature
Extracted DNA: Stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Incorrectly labeled or contaminated samples
  • Samples without proper documentation

Understanding Your Results

Results indicate whether pathogenic variants in the GNAO1 gene are detected. Consult a genetic counselor or neurologist for detailed interpretation.
Positive result: Pathogenic variant detected, confirming EIEE17 diagnosis
Negative result: No pathogenic variants; clinical correlation may be needed
Variant of uncertain significance (VUS): Requires further evaluation and family studies
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic counselor immediately after receiving results for appropriate management and family planning advice.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●No significant risks from the genetic test itself

Interfering Factors

  • ●Sample degradation or improper storage
  • ●Contamination during sample collection or processing

Frequently Asked Questions

What is EIEE17?
EIEE17 is a rare genetic epilepsy disorder caused by mutations in the GNAO1 gene, leading to severe seizures and developmental issues in infants.
How is EIEE17 diagnosed?
Diagnosis involves clinical evaluation, EEG, MRI, and genetic testing like NGS to identify GNAO1 gene mutations.
What does the NGS Genetic Test for EIEE17 involve?
It uses Next-Generation Sequencing to analyze the GNAO1 gene for mutations from a blood or FTA card sample.
What is the cost of the GNAO1 Gene EIEE17 NGS Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection across India.
What sample type is required for this test?
Blood, extracted DNA, or one drop of blood on an FTA card is accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results include?
Results include a clinical report, raw data, FASTQ files, and VCF files for transparency.
Can this test detect other genetic disorders?
The test focuses on GNAO1 mutations for EIEE17, but may incidentally identify variants in other genes; consult a geneticist.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
What should I do after receiving the test results?
Consult a neurologist or genetic counselor to discuss results and plan management or treatment.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before testing to draw a pedigree chart and discuss implications.
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

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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