Skip to main content
DNA Labs India

EEF1A2 Gene Mental retardation, autosomal dominant type 38 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

EEF1A2 Gene Mental retardation, autosomal dominant type 38 NGS Genetic Test

Short Name: EEF1A2 Gene NGS Test

Also known as: EEF1A2 Gene Mutation Analysis, MRD38 Genetic Test, Autosomal Dominant Mental Retardation Type 38 NGS Panel

EEF1A2 Gene Mental retardation, autosomal dominant type 38 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / One Drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll 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

To detect pathogenic mutations in the EEF1A2 gene associated with autosomal dominant mental retardation type 38 (MRD38) and to aid in the molecular confirmation of clinically suspected cases.

Test Code
4246
Price
₹20,000
Sample Type
Blood / Extracted DNA / One Drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is recommended before the test to draw a pedigree chart and evaluate family history. No special preparation such as fasting is required.

Method: Venipuncture or finger-prick (FTA card)

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from the arm. If an FTA card is used, a single drop of blood is collected via a finger-prick. The procedure is quick and safe.

Step 3

Report Delivery

There are no specific precautions. The patient can resume normal activities immediately after sample collection.

Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:You do not need to fast. Please bring any previous medical records, doctor's prescriptions, and a copy of the family pedigree if available. A genetic counsellor will explain the test procedure and obtain informed consent.
2
During the Test:A small blood sample (3-5 ml) will be drawn from a vein in your arm. Alternatively, a drop of blood may be placed on an FTA card. The process takes about 5-10 minutes.
3
After the Test:You may leave immediately after the collection. There is minimal risk of bruising or infection at the puncture site. The laboratory will process the sample and provide the report within the promised turnaround time.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the EEF1A2 gene associated with autosomal dominant mental retardation type 38 (MRD38) and to aid in the molecular confirmation of clinically suspected cases.

How to Prepare

  • Online bookings include free home sample collection by a certified phlebotomist.
  • Blood samples should be collected in an EDTA vacutainer.
  • For FTA card collection, ensure the blood spot is air-dried completely before packaging.
  • Samples must be labeled accurately with patient identification details.
  • The sample should be transported to the lab within 24 hours if collected at home.

Doctor's Notes

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

"Early molecular diagnosis of EEF1A2-related intellectual disability through NGS testing provides a foundation for personalised management and family planning. As a gynaecologist, I often recommend this test in the context of unexplained intellectual disability in children, especially when there is a family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One Drop Blood on FTA Card
ContainerEDTA vial or FTA card
Collection MethodVenipuncture or finger-prick (FTA card)

Sample Stability

Blood (EDTA): Stable for 24 hours at room temperature; up to 72 hours when refrigerated at 2-8°C.
Extracted DNA: Stable for weeks at -20°C or -80°C.
FTA card: Stable at ambient temperature for extended periods (months to years).
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect sample labeling or mismatched requisition
  • Sample in improper container (e.g., serum separator tube)
  • DNA of insufficient quantity or quality

Understanding Your Results

The genetic test report should be interpreted by a clinical geneticist. The result must be considered in light of the patient's clinical presentation and family history.
📊

Pathogenic variant detected

Confirms a molecular diagnosis of autosomal dominant mental retardation type 38 (MRD38).

📊

Likely pathogenic variant detected

Suggests a strong likelihood of pathogenicity; clinical correlation and family studies may be recommended.

📊

Variant of uncertain significance (VUS)

The variant is not fully understood; additional segregation analysis or functional studies may be required.

📊

No pathogenic variant detected

No clinically significant mutation was identified in the EEF1A2 gene. This does not exclude other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

If your child has unexplained intellectual disability, seizures, delayed speech, or behavioral issues, or if there is a known family history of MRD38, please consult a clinical geneticist or pediatric neurologist for a detailed evaluation.

Limitations

  • ⚠NGS may not reliably detect large genomic rearrangements or structural variants involving deep intronic regions
  • ⚠Variants of uncertain significance (VUS) may be reported and require further family studies
  • ⚠This test does not rule out other genetic causes of intellectual disability
  • ⚠Results should be interpreted in the context of clinical findings and family history

Risks & Considerations

  • ●Minimal pain, bruising, or bleeding at the venipuncture site
  • ●Very low risk of infection

Interfering Factors

  • ●Maternal cell contamination in sample
  • ●Low DNA quantity or degraded DNA
  • ●Mutations outside the covered target regions
  • ●Concurrent hematological conditions causing PCR inhibition

Frequently Asked Questions

What is the EEF1A2 gene?
The EEF1A2 gene provides instructions for making the eukaryotic elongation factor 1 alpha 2 (eEF1A2) protein, which plays a crucial role in the elongation phase of protein synthesis. It is highly expressed in the brain and is essential for normal neuronal function.
What is autosomal dominant mental retardation type 38 (MRD38)?
MRD38 is a rare genetic disorder inherited in an autosomal dominant manner. It is characterized by intellectual disability, delayed speech and language development, behavioral problems, and sometimes seizures and movement disorders. It is caused by pathogenic variants in the EEF1A2 gene.
What are the symptoms of MRD38?
Symptoms include intellectual disability, delayed speech and language, behavioral problems such as hyperactivity and autistic features, seizures, abnormal muscle tone, and movement disorders. The severity varies among affected individuals, even within the same family.
How is MRD38 diagnosed?
MRD38 is diagnosed by clinical evaluation, family history, and confirmed by genetic testing that identifies a pathogenic mutation in the EEF1A2 gene. Next-generation sequencing (NGS) is an efficient method to detect such mutations.
Why is NGS used for this genetic test?
NGS is used because it can rapidly sequence multiple genes or targeted regions simultaneously with high accuracy. This makes it a cost-effective and reliable approach for detecting small mutations in the EEF1A2 gene when compared to older methods like Sanger sequencing.
What is the cost of the EEF1A2 gene NGS test at DNA Labs India?
The EEF1A2 gene NGS genetic test costs INR 20,000 at DNA Labs India. The price includes free home sample collection for online bookings, and is offered at a special discounted rate across India.
What sample is required for the test?
The test can be performed on a blood sample (EDTA), extracted DNA, or a single drop of blood spotted on an FTA card. The sample is processed in our NABL-accredited laboratory.
How long will it take to get the results?
The turnaround time for this NGS genetic test is typically 3 to 4 weeks from the date the sample is received at the laboratory. Reports are shared via email, online portal, and WhatsApp.
Is a genetic counselling session necessary before the test?
Yes, a pre-test genetic counselling session is strongly recommended. Our genetic counsellor will draw a family pedigree, review medical history, explain the test limitations, and help you make an informed decision.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant has been identified in the EEF1A2 gene. This confirms the molecular diagnosis of autosomal dominant mental retardation type 38 (MRD38) and has implications for family members.
Can the test detect all types of EEF1A2 mutations?
NGS captures sequence variants within the coding regions and intronic boundaries. It can detect single nucleotide variants and small insertions/deletions. However, deep intronic mutations, large structural rearrangements, or repeat expansions may not be detected by this method.
Is this test suitable for prenatal diagnosis?
This test is designed for postnatal genetic diagnosis using blood or DNA samples. Prenatal testing requires amniocentesis or CVS samples and must be performed in a specialized prenatal genetic laboratory with appropriate counselling and consent.
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.

Related Tests

KCTD3 Gene Neurodevelopmental disorder, KCTD3 related NGS Genetic Test

₹20,000

CNTNAP4 Gene Neurodevelopmental disorder, CNTNAP4 related NGS Genetic Test

₹20,000

MACF1 Gene Neurodevelopmental disorder, MACF1 related NGS Genetic Test

₹20,000

AHNAK2 Gene Autism Spectrum Disorder NGS Genetic Test

₹20,000

CROCC Gene Neurodevelopmental disorder, CROCC related NGS Genetic Test

₹20,000

ATP1B4 Gene Autism, ATP1B4 Related NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.