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DNA Labs India

FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic Test

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FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked NGS Genetic Test

Short Name: FOXP3 Gene IPEX Syndrome NGS Test

Also known as: IPEX Syndrome, FOXP3-related Immunodysregulation

FOXP3 Gene Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To confirm diagnosis of Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-linked (IPEX) syndrome through genetic testing, enabling early intervention and family screening.

Test Code
5027
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling recommended. Provide clinical history and family pedigree.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture.

Step 3

Report Delivery

Sample sent to lab for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent required.
2
During the Test:Blood sample collection.
3
After the Test:Wait for report in 3-4 weeks.

About This Test

Who Should Get This Test

To confirm diagnosis of Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-linked (IPEX) syndrome through genetic testing, enabling early intervention and family screening.

How to Prepare

  • Use EDTA tube or FTA card
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for IPEX syndrome is crucial for timely management, family screening, and improving patient outcomes through personalized care."

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

Blood in EDTA: stable for 7 days at room temperature
FTA card: stable for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FOXP3 gene.
📊

Pathogenic variant detected

Confirms diagnosis of IPEX syndrome. Genetic counseling and family screening recommended.

📊

No pathogenic variant detected

IPEX syndrome unlikely, but clinical correlation advised.

⚠️ When to Consult a Doctor:

If symptoms of IPEX syndrome are present or if there is a family history of the disorder.

Limitations

  • May not detect all types of mutations
  • Requires genetic counseling for interpretation
  • Not a screening test for general population

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic diagnosis

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Hemolyzed blood sample

Frequently Asked Questions

What is IPEX syndrome?
IPEX syndrome is a rare genetic disorder caused by mutations in the FOXP3 gene, leading to severe autoimmune dysfunction affecting multiple organs.
What causes IPEX syndrome?
IPEX syndrome is caused by mutations in the FOXP3 gene, which is essential for the development and function of regulatory T cells that control immune responses.
What are the symptoms of IPEX syndrome?
Symptoms include severe diarrhea, eczema, type 1 diabetes, autoimmune thyroiditis, and other autoimmune disorders, often presenting in infancy.
How is IPEX syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the FOXP3 Gene NGS Test, which detects mutations in the FOXP3 gene with high accuracy.
What is the FOXP3 gene test?
It is a next-generation sequencing (NGS) test that analyzes the FOXP3 gene for mutations associated with IPEX syndrome.
How is the test performed?
The test requires a blood sample, which is collected via venipuncture and analyzed using NGS technology in the laboratory.
What is the cost of the FOXP3 gene test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate whether pathogenic variants in the FOXP3 gene are detected, confirming or ruling out IPEX syndrome, with interpretation provided in the report.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand the implications, inheritance patterns, and family risks.
Can other family members be tested?
Yes, if a mutation is identified, other family members can be tested to determine carrier status or risk for IPEX syndrome.
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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