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EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test

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EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test

Short Name: Wolcott-Rallison Syndrome NGS Test

Also known as: EIF2AK3-related syndrome, Wolcott-Rallison Syndrome Genetic Test

EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

Genetic TestPediatric🏠 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 identify pathogenic mutations in the EIF2AK3 gene for the diagnosis of Wolcott-Rallison Syndrome, enabling early intervention and management.

Test Code
5171
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session recommended. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture. Minimal discomfort.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample sent to laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor. Provide detailed medical and family history.
2
During the Test:Blood sample collection procedure.
3
After the Test:Wait for report. Discuss results with healthcare provider.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the EIF2AK3 gene for the diagnosis of Wolcott-Rallison Syndrome, enabling early intervention and management.

How to Prepare

  • Consult with a genetic counselor before testing
  • Avoid strenuous activity before sample collection
  • Bring identification and prescription

Doctor's Notes

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

"Early genetic testing for Wolcott-Rallison Syndrome can lead to timely management of diabetes and other complications, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the EIF2AK3 gene. A positive result confirms Wolcott-Rallison Syndrome, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of Wolcott-Rallison Syndrome. Genetic counseling and management plan recommended.

📊

No pathogenic variant detected

Wolcott-Rallison Syndrome unlikely, but clinical correlation is advised. Consider other genetic tests if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of early-onset diabetes, growth issues, or recurrent infections are present, or if there is a family history of the syndrome.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic diagnosis

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is Wolcott-Rallison syndrome?
Wolcott-Rallison syndrome is a rare genetic disorder characterized by early-onset diabetes, growth retardation, and abnormalities in organs like the liver, pancreas, and kidneys.
What causes Wolcott-Rallison syndrome?
It is caused by mutations in the EIF2AK3 gene, which disrupts insulin regulation and glucose metabolism.
What are the symptoms of Wolcott-Rallison syndrome?
Symptoms include early-onset diabetes, growth retardation, recurrent infections, developmental delays, and organ abnormalities.
How is Wolcott-Rallison syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as NGS sequencing of the EIF2AK3 gene, along with clinical evaluation.
What is the EIF2AK3 gene?
The EIF2AK3 gene provides instructions for making a protein that regulates insulin production and glucose metabolism.
What does the NGS genetic test involve?
The test uses next-generation sequencing to analyze the EIF2AK3 gene for mutations from a blood sample.
How much does the test cost?
The EIF2AK3 Gene Wolcott-Rallison Syndrome NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test is positive?
Consult a healthcare provider for management options, including diabetes care and genetic counseling for family planning.
Can this test be used for carrier testing?
Yes, it can identify carriers of EIF2AK3 mutations, but genetic counseling is recommended to understand implications.
Is genetic counseling recommended?
Yes, genetic counseling before and after testing is advised to discuss results, risks, and family 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.

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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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