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EEF1A2 Gene Early infantile epileptic encephalopathy type 33 NGS Genetic Test

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EEF1A2 Gene Early infantile epileptic encephalopathy type 33 NGS Genetic Test

Short Name: EEF1A2 EIEE33 NGS

Also known as: EEF1A2-related EIEE33, EIEE33 Genetic Test, Early Infantile Epileptic Encephalopathy Type 33 NGS Panel

EEF1A2 Gene Early infantile epileptic encephalopathy type 33 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 Reports will be delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants/Children🏠 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 pathogenic or likely pathogenic variants in the EEF1A2 gene to confirm a molecular diagnosis of early infantile epileptic encephalopathy type 33, distinguish it from other early-onset epileptic encephalopathies, guide treatment decisions, and inform recurrence risk counselling.

Test Code
4034
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. Clinical phenotype and family history should be documented. Genetic counselling should be completed prior to testing with a pedigree chart.

Method: Routine venipuncture or FTA card blood collection

Step 2

Laboratory Analysis

A strict aseptic venipuncture will be performed for blood collection. If FTA card is used, ensure one full drop of blood uniformly saturates the marked circles. For extracted DNA, use a validated extraction protocol.

Step 3

Report Delivery

Label the sample with patient identifiers and requisition number. Keep blood at room temperature or 2-8°C until transport. For FTA card, dry completely at ambient temperature in a clean area.

Timeline: Reports will be delivered within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No special preparation such as fasting is required. Clinical phenotype and family history should be documented. Genetic counselling should be completed prior to testing with a pedigree chart.
2
During the Test:A strict aseptic venipuncture will be performed for blood collection. If FTA card is used, ensure one full drop of blood uniformly saturates the marked circles. For extracted DNA, use a validated extraction protocol.
3
After the Test:Label the sample with patient identifiers and requisition number. Keep blood at room temperature or 2-8°C until transport. For FTA card, dry completely at ambient temperature in a clean area.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic or likely pathogenic variants in the EEF1A2 gene to confirm a molecular diagnosis of early infantile epileptic encephalopathy type 33, distinguish it from other early-onset epileptic encephalopathies, guide treatment decisions, and inform recurrence risk counselling.

How to Prepare

  • Collect blood in an EDTA vacutainer.
  • For FTA card, apply one drop of blood to each marked spot.
  • Extracted DNA should be provided with concentration and purity information.
  • All samples must be labelled with unique barcode and patient details.

Doctor's Notes

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

"Women planning pregnancy with a family history of EIEE33 should consider genetic counselling and targeted carrier testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodRoutine venipuncture or FTA card blood collection

Sample Stability

Whole blood (EDTA): stable for 3 days at 2-8°C.
Extracted DNA: stable for 12 months at -20°C or lower.
FTA card: stable for at least 12 months at 15-30°C (room temperature).
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample.
  • FTA card with insufficient blood, contamination, or wet packaging.
  • DNA sample with degradation or low concentration.
  • Sample without proper labelling or consent.

Understanding Your Results

This test is interpreted in the context of clinical findings, family history, and genetic counselling. A pathogenic variant in the EEF1A2 gene confirms the molecular diagnosis of EIEE33.
📊

Pathogenic Variant Detected

Confirms molecular diagnosis of EEF1A2-associated EIEE33. Genetic counselling is recommended.

📊

Likely Pathogenic Variant Detected

Probably disease-causing; correlation with phenotype is required.

📊

Variant of Uncertain Significance (VUS)

Insufficient evidence to classify. Additional family segregation studies may be needed.

📊

No Pathogenic Variant Detected

Does not rule out EIEE33; consider other genetic causes or alternative testing.

⚠️ When to Consult a Doctor:

If an infant presents with seizures or developmental regression, a pediatric neurologist and a clinical geneticist should be consulted promptly for multidisciplinary management.

Limitations

  • ⚠NGS does not reliably detect deep intronic mutations, large structural rearrangements, or triplet repeat expansions.
  • ⚠Variants of uncertain significance (VUS) may require additional functional studies.
  • ⚠A negative result does not exclude EIEE33 due to possible genetic heterogeneity or missed variants.
  • ⚠Results should be interpreted by an experienced clinical geneticist.

Risks & Considerations

  • ●Mild pain or bruising at the venipuncture site.
  • ●Rarely, bleeding or infection.
  • ●Emotional stress from receiving genetic results.

Interfering Factors

  • ●Presence of maternal cell contamination in sample.
  • ●Poor DNA integrity or quantity.
  • ●Incomplete clinical information or pedigree details.
  • ●Variants in regulatory regions may not be detected by standard NGS.

Frequently Asked Questions

What is the EEF1A2 gene early infantile epileptic encephalopathy type 33 NGS genetic test?
This is a targeted next-generation sequencing test that screens for mutations in the EEF1A2 gene to confirm the diagnosis of EIEE33, a rare genetic epilepsy syndrome in infancy.
How much does the EEF1A2 NGS genetic test cost in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection in predominantly cosmopolitan and Tier-2 cities across India.
What sample is needed for the EEF1A2 genetic test?
Whole blood (EDTA), extracted DNA, or one drop of blood on an FTA card is acceptable.
Is fasting required before this test?
No, fasting is not required for this genetic test.
How long does it take to get the EEF1A2 NGS genetic test report?
The turnaround time is typically 3 to 4 weeks from the date of sample receipt.
Which symptoms are associated with EIEE33?
Symptoms include drug-resistant seizures, developmental delay, intellectual disability, hypotonia, feeding difficulty, and abnormal eye movements.
Who should undergo this EEF1A2 NGS genetic test?
Infants with early-onset seizures, global developmental delay, or a family history of EIEE33 should consider testing after genetic counselling.
What does a positive test result mean?
A positive result (pathogenic variant) confirms the clinical diagnosis of EIEE33 and enables targeted management and counselling.
What does a negative test result mean?
A negative result reduces the likelihood of an EEF1A2 mutation but does not completely exclude EIEE33; other genetic causes may be explored.
Are there any risks in the test?
The only risks are those of routine blood collection, including a small chance of bruising or discomfort.
Can EIEE33 be cured?
There is no cure for EIEE33; treatment focuses on seizure control, developmental support, and multidisciplinary care.
How do I book this EEF1A2 genetic test with home sample collection?
You can book online on the DNA Labs India website or call the helpline; the test price is a discounted INR 20,000 with free home collection in eligible cities.
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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