EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
Short Name: Wolcott-Rallison Syndrome NGS Test
Also known as: WRS, EIF2AK3-related disorder, Wolcott-Rallison syndrome genetic test
EIF2AK3 Gene Wolcott-Rallison syndrome 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of the EIF2AK3 Gene Wolcott-Rallison Syndrome NGS Genetic Test is to confirm a diagnosis of Wolcott-Rallison Syndrome by detecting pathogenic mutations in the EIF2AK3 gene. This aids in early intervention, personalized treatment plans, and genetic counseling for affected families.
- Test Code
- 5520
- 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
Sample Collection
No specific preparation required. Provide clinical history and family pedigree as per genetic counseling session.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. For FTA card collection, a single drop of blood is applied to the card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as instructed before transport to the laboratory.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EIF2AK3 Gene Wolcott-Rallison Syndrome NGS Genetic Test is to confirm a diagnosis of Wolcott-Rallison Syndrome by detecting pathogenic mutations in the EIF2AK3 gene. This aids in early intervention, personalized treatment plans, and genetic counseling for affected families.
How to Prepare
- Ensure patient identification is accurate
- Use sterile equipment for blood draw
- Label samples correctly with patient details
- Transport samples at ambient room temperature
- Avoid hemolysis during collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Wolcott-Rallison Syndrome is crucial for timely management and family planning. Consult a genetic counselor for personalized advice."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
- Samples exceeding stability period
Understanding Your Results
Positive for pathogenic mutation
Confirms diagnosis of Wolcott-Rallison Syndrome. Recommend genetic counseling and multidisciplinary management.
Negative for pathogenic mutation
No mutations detected in EIF2AK3 gene. Consider other genetic or clinical causes if symptoms persist.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown. Follow-up testing and family studies may be needed.
Consult a doctor if you experience symptoms such as early-onset diabetes, skeletal abnormalities, or liver issues, especially with a family history of genetic disorders. Genetic counseling is recommended before and after testing.
Limitations
- ⚠May not detect all types of genetic variations, such as large deletions or duplications
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other genetic disorders with similar symptoms
- ⚠Turnaround time may vary based on laboratory workload
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic diagnosis
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Presence of inhibitors in blood samples
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test | Sanger Sequencing | Clinical Diagnosis | Biochemical Tests |
|---|---|---|---|---|
| Comparison | EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test | NGS offers higher throughput and can detect multiple mutations simultaneously, while Sanger is targeted but slower. | Genetic testing provides definitive diagnosis, whereas clinical diagnosis based on symptoms alone may be inconclusive. | Biochemical tests like insulin levels may indicate diabetes but cannot confirm genetic etiology. |
Frequently Asked Questions
What is Wolcott-Rallison Syndrome?
How is the EIF2AK3 Gene Test performed?
What is the cost of the test in India?
Is home sample collection available?
How long does it take to get results?
What sample type is required?
Is fasting required before the test?
Who should consider this test?
What does a positive result mean?
Can the test detect all mutations?
Is genetic counseling included?
What are the risks of the test?
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₹20,000Reference 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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