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STAT3 Gene Hyper-IgE recurrent infection syndrome NGS Genetic Test

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STAT3 Gene Hyper-IgE recurrent infection syndrome NGS Genetic Test

Short Name: STAT3 Hyper-IgE Syndrome NGS Test

Also known as: Job syndrome, Buckley syndrome, STAT3 deficiency

STAT3 Gene Hyper-IgE recurrent infection 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose STAT3 Gene Hyper-IgE Recurrent Infection Syndrome by detecting mutations in the STAT3 gene using NGS technology. It helps confirm clinical suspicion, guide treatment decisions, and provide genetic counseling for families.

Test Code
4966
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
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect blood sample. For FTA card, a drop of blood is applied.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are mandatory before the test.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample sent to lab for NGS analysis. Results delivered in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose STAT3 Gene Hyper-IgE Recurrent Infection Syndrome by detecting mutations in the STAT3 gene using NGS technology. It helps confirm clinical suspicion, guide treatment decisions, and provide genetic counseling for families.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure sample is collected in a sterile environment
  • Label sample correctly with patient details

Doctor's Notes

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

"This NGS test is essential for confirming Hyper-IgE syndrome, which can cause severe recurrent infections and complications. Early diagnosis aids in management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the STAT3 gene. A positive result confirms diagnosis, while a negative result may require further testing.
📊

Positive for pathogenic variant

Confirms diagnosis of STAT3 Hyper-IgE syndrome. Genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected. Clinical correlation and additional tests may be needed if symptoms persist.

📊

Variant of uncertain significance

Further evaluation and family studies recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience recurrent infections, chronic eczema, or have a family history of Hyper-IgE syndrome. After testing, consult for result interpretation and management.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • Not a standalone diagnostic tool; clinical correlation is essential

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Emotional impact of genetic results

Interfering Factors

  • Sample contamination
  • Improper sample storage
  • Recent blood transfusion

Frequently Asked Questions

What is STAT3 Gene Hyper-IgE Recurrent Infection Syndrome?
It is a rare genetic disorder caused by mutations in the STAT3 gene, leading to immune system dysfunction, recurrent infections, and other symptoms.
What are the common symptoms of this syndrome?
Symptoms include recurrent skin infections, frequent respiratory infections, chronic lung infections, delayed wound healing, chronic eczema, and facial/skeletal abnormalities.
How is the NGS Genetic Test performed?
The test analyzes a blood sample or extracted DNA using Next-Generation Sequencing to detect mutations in the STAT3 gene.
What is the cost of the test?
The test costs INR 20000.0, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result confirms the presence of pathogenic mutations in the STAT3 gene, indicating Hyper-IgE syndrome.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications.
Can this test be done for children?
Yes, the test is suitable for all ages, including children, with appropriate clinical indication.
What are the risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
How accurate is the NGS test for this syndrome?
NGS technology provides high accuracy for detecting mutations, but clinical correlation is essential.
What should I do if I test positive?
Consult a healthcare provider for management, treatment options, and genetic counseling for family planning.
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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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.

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