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GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic Test

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GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic Test

Short Name: GABRB1 EIEE45 NGS

Also known as: EIEE45 Genetic Test, GABRB1 Gene NGS Sequence Analysis, GABRB1-Related Epileptic Encephalopathy Test

GABRB1 Gene Early infantile epileptic encephalopathy type 45 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 Samples are processed immediately upon arrival. Reports are generally issued within 3 to 4 weeks after the sample reaches the lab. Exact timing may vary based on sequence coverage and variant analysis.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants and Children (also applicable to all ages)🏠 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 NGS genetic test is to detect mutations in the GABRB1 gene that are associated with Early Infantile Epileptic Encephalopathy Type 45 (EIEE45). The test identifies pathogenic or likely pathogenic variants, thereby confirming the clinical diagnosis, facilitating early intervention, and helping families with recurrence risk counseling.

Test Code
4039
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Samples are processed immediately upon arrival. Reports are generally issued within 3 to 4 weeks after the sample reaches the lab. Exact timing may vary based on sequence coverage and variant analysis.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counseling session is recommended to draw a pedigree chart of family members affected with EIEE45 and to obtain informed consent. Discuss seizure medications and relevant medical history with the physician.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

For blood collection, an experienced phlebotomist will draw 2-3 mL peripheral blood into an EDTA vacutainer. For FTA card, a few drops of blood from a fingertip are applied onto the card. The procedure is quick with minimal discomfort.

Step 3

Report Delivery

There are no diet or activity restrictions. The sample will be transported to the lab for NGS analysis. Results are typically available in 3 to 4 weeks. Your genetic counselor or physician will discuss the report with you.

Timeline: Samples are processed immediately upon arrival. Reports are generally issued within 3 to 4 weeks after the sample reaches the lab. Exact timing may vary based on sequence coverage and variant analysis.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the benefits, limitations, and implications of the test. Complete clinical history and pedigree chart will be prepared. No special preparation such as fasting is required.
2
During the Test:Sample collection will be performed by a trained phlebotomist. For infants, a heel-prick finger-stick may be used for FTA card. The actual NGS analysis occurs in the laboratory and does not involve the patient.
3
After the Test:You will receive your report via email/WhatsApp within 3-4 weeks. A post-test counseling session with a geneticist is recommended to understand the results and receive guidance about treatment, follow-up, and recurrence risk.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect mutations in the GABRB1 gene that are associated with Early Infantile Epileptic Encephalopathy Type 45 (EIEE45). The test identifies pathogenic or likely pathogenic variants, thereby confirming the clinical diagnosis, facilitating early intervention, and helping families with recurrence risk counseling.

How to Prepare

  • No fasting is required.
  • Genetic counseling session prior to blood draw is required as per standard protocols.
  • Ensure the FTA card is completely dry before placing in the protective pouch.
  • Label the sample with patient's name, date of birth, and date of collection.

Doctor's Notes

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

"Early infantile epileptic encephalopathy type 45 is a rare but devastating disorder. Genetic testing provides a definitive diagnosis and is essential for counseling parents about recurrence risks and management."

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 whole blood or 1-2 µg DNA or 1 FTA blood spot
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Whole blood (EDTA): 48 hours at 2-8°C
Extracted DNA: 12 months at -20°C or below
FTA card: 6 months at room temperature (15-25°C)
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient DNA quantity (<100 ng)
  • Unlabeled or mislabeled sample
  • Sample received in non-sterile or leaking container

Understanding Your Results

The test report will include the complete sequence data of GABRB1 gene and any detected variants. Each variant is classified according to ACMG guidelines. A clinically actionable variant is reported as pathogenic or likely pathogenic. VUS is reported with guidance for further family testing.
Pathogenic variant: Confirms a diagnosis of EIEE45; appropriate for genetic counseling.
Likely pathogenic variant: Highly suggestive of causation; additional evidence may be needed.
Variant of uncertain significance: Not sufficient for diagnosis; consider segregation studies.
No pathogenic variant(s) identified: Does not exclude EIEE45; additional genetic testing may be required.
⚠️ When to Consult a Doctor:

Consult a pediatric neurologist or clinical geneticist if your child has recurrent seizures, developmental delay, unusual eye movements, or motor abnormalities. If the NGS test is positive, genetic counseling is strongly recommended for family planning and management.

Limitations

  • ⚠This test does not detect all possible GABRB1 pathogenic mechanisms, such as whole gene deletions/duplications, deep intronic variants, or epigenetic mutations.
  • ⚠A negative result does not rule out EIEE45.
  • ⚠Clinical diagnosis remains authoritative.
  • ⚠This test should not be used as a standalone screening test in the general population.

Risks & Considerations

  • ●There are no significant medical risks associated with blood collection. Minor bruising or pain at the needle site may occur.
  • ●The use of an FTA card is minimally invasive.

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination with maternal cells
  • ●Variant in non-coding or regulatory regions
  • ●Large deletions/duplications not detected by NGS
  • ●Gene conversion or pseudogene interference

Compare With Similar Tests

TestGABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic TestEIEE Targeted Gene PanelWhole Exome Sequencing (WES)GABRB1 Sanger Sequencing
ComparisonGABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic Test

Frequently Asked Questions

What is the GABRB1 gene EIEE45 NGS genetic test?
It is a Next Generation Sequencing test that analyzes the GABRB1 gene for mutations that cause Early Infantile Epileptic Encephalopathy Type 45 (EIEE45). The test confirms the genetic diagnosis and supports medical management.
Is the test only for children?
EIEE45 typically presents in infancy, but the test can be performed on any individual with suspected symptoms or a family history. Genetic counseling is recommended before testing.
What sample is needed for the test?
The sample can be 2-3 mL whole blood in an EDTA tube, isolated DNA, or one drop of blood on an FTA card. All are accepted for analysis.
Do I need to fast before the test?
No. Fasting is not required for the GABRB1 NGS genetic test. You can eat and drink normally before sample collection.
How long does it take to get the results?
Reports are typically available within 3 to 4 weeks after the sample is received at our laboratory. You will be notified once the report is ready.
Is genetic counseling needed before the test?
Yes. It is highly recommended to have a genetic counseling session before the test to draw a family pedigree, discuss implications, and obtain informed consent.
Can this test be done during pregnancy?
Prenatal testing for EIEE45 is possible using appropriate prenatal specimens. This is a specialized procedure and requires prior genetic counseling and approval. Please consult your genetic specialist.
What do the test results mean?
If a pathogenic or likely pathogenic variant in GABRB1 is identified, it confirms EIEE45. If no variant is found, it does not rule out the condition, and further testing may be considered.
Is this test covered by insurance?
Currently, this NGS genetic test is generally not covered by insurance. Payment is required at the time of service. However, coverage may vary by plan; we recommend checking with your provider.
Are raw data files provided with the report?
Yes. DNA Labs India is transparent and will provide the raw sequencing data files (FASTQ and VCF) along with the conclusive clinical report for this test.
Can the test detect all types of GABRB1 mutations?
This NGS test detects single nucleotide variants and small indels in the coding regions and splice junctions. It may not detect large genomic deletions/duplications or deep intronic variants. Additional testing may be needed.
Is home sample collection available?
Yes. DNA Labs India offers free home sample collection for this test across major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and many others.
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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