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AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test

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AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test

Short Name: AIRE Gene APS-1 NGS Test

Also known as: APS-1, APECED, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

AIRE Gene Autoimmune polyendocrinopathy syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric and Adolescent🏠 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 diagnose Autoimmune Polyendocrinopathy Syndrome Type 1 by detecting mutations in the AIRE gene using next-generation sequencing technology.

Test Code
4849
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Genetic counseling recommended to discuss test implications and family history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture in a standard EDTA tube.

Step 3

Report Delivery

Sample is transported to the laboratory at ambient temperature for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test process and implications.
2
During the Test:A blood sample will be drawn from a vein in your arm.
3
After the Test:Wait for the report (3-4 weeks) and discuss results with your physician.

About This Test

Who Should Get This Test

To diagnose Autoimmune Polyendocrinopathy Syndrome Type 1 by detecting mutations in the AIRE gene using next-generation sequencing technology.

How to Prepare

  • Use EDTA tube for blood collection
  • Label sample correctly with patient details
  • Transport at room temperature

Doctor's Notes

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

"Genetic testing for APS-1 is crucial for early diagnosis and management of endocrine and autoimmune complications, especially in families with a history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample VolumeAs required
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 72 hours at room temperature (15-25°C)
Sample Rejection Criteria:
  • Clotted or hemolyzed sample
  • Incorrect tube type or insufficient volume

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the AIRE gene associated with APS-1.
Positive: Pathogenic mutation detected, consistent with APS-1 diagnosis. Clinical correlation and further management recommended.
Negative: No pathogenic mutations detected. Clinical symptoms may require additional testing.
Variant of uncertain significance (VUS): Further family studies or functional assays may be needed for clarification.
⚠️ When to Consult a Doctor:

If symptoms of APS-1 are present, for family planning, or if genetic testing results are positive or uncertain.

Limitations

  • ⚠May not detect all rare genetic variations
  • ⚠Requires clinical correlation and genetic counseling

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination

Frequently Asked Questions

What is Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1)?
APS-1 is a rare genetic disorder caused by mutations in the AIRE gene, leading to autoimmune attacks on multiple endocrine glands and other organs, often presenting in childhood.
What causes APS-1?
APS-1 is caused by mutations in the AIRE gene, which is essential for immune system regulation and preventing autoimmunity.
How is APS-1 diagnosed?
Diagnosis involves clinical evaluation of symptoms and genetic testing to confirm mutations in the AIRE gene.
What does the AIRE Gene NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the entire AIRE gene from a blood sample, detecting over 99% of known mutations.
What is the cost of the AIRE Gene APS-1 NGS Test?
The test costs INR 20,000 at DNA Labs India, including sample collection, analysis, and report.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the common symptoms of APS-1?
Symptoms include chronic mucocutaneous candidiasis, adrenal insufficiency, hypoparathyroidism, chronic hepatitis, autoimmune thyroiditis, and type 1 diabetes.
Can APS-1 be treated?
While there is no cure, symptoms can be managed with hormone replacement therapy, antifungal medications, and other treatments guided by genetic diagnosis.
Is genetic testing necessary for APS-1?
Yes, genetic testing confirms the diagnosis, helps in family planning, and guides medical management.
What if the test result is positive?
A positive result indicates APS-1, and you should consult with a specialist for ongoing management and monitoring.
Are there any risks associated with the genetic test?
The test involves minimal risks from blood draw, but genetic results may have psychological implications; genetic counseling is recommended.
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.

LIMS Integration

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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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