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AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test

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AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test

Short Name: AAAS Gene Genetic Test

Also known as: Triple A Syndrome, AAAS Syndrome

AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 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 AAAS gene mutations causing Achalasia Addisonianism Alacrimia Syndrome for early management, treatment, and genetic counseling.

Test Code
1508
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling recommended before the test. Ensure informed consent is obtained.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture from a vein in the arm.

Step 3

Report Delivery

Sample labeled and sent to the laboratory for DNA extraction and analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent obtained from the patient or guardian.
2
During the Test:Blood sample collection, DNA extraction, and next-generation sequencing analysis.
3
After the Test:Report generation, interpretation by geneticist, and delivery to patient or physician.

About This Test

Who Should Get This Test

To diagnose AAAS gene mutations causing Achalasia Addisonianism Alacrimia Syndrome for early management, treatment, and genetic counseling.

How to Prepare

  • Fasting is not required
  • Collect blood in an EDTA tube
  • Label sample with patient details correctly
  • Store at ambient temperature until shipment

Doctor's Notes

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

"Early genetic diagnosis is crucial for managing AAAS syndrome and improving patient outcomes through tailored treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 48 hours
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling or missing information

Understanding Your Results

Results indicate the presence or absence of mutations in the AAAS gene associated with Achalasia Addisonianism Alacrimia Syndrome.
Positive result: Pathogenic mutation detected, confirms diagnosis and guides management.
Negative result: No pathogenic mutation detected, but clinical correlation and further testing may be needed.
Variant of uncertain significance: Further evaluation and genetic counseling recommended.
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms like difficulty swallowing, adrenal issues, or dry eyes are present, or for family history counseling.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for variants of uncertain significance

Interfering Factors

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

Compare With Similar Tests

TestAAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test
ComparisonAAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test

Frequently Asked Questions

What is AAAS Gene Achalasia Addisonianism Alacrimia Syndrome?
It is a rare genetic disorder affecting the autonomic nervous system, causing achalasia, adrenal insufficiency, and alacrimia due to mutations in the AAAS gene.
How is AAAS syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test, which detects mutations in the AAAS gene.
What does the NGS Genetic Test involve?
The test involves taking a blood or saliva sample, extracting DNA, and using next-generation sequencing to analyze the AAAS gene for mutations.
What is the cost of the AAAS Gene NGS Test in India?
The cost is approximately INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What are the symptoms of AAAS syndrome?
Common symptoms include difficulty swallowing, adrenal insufficiency, dry eyes, and autonomic nervous system dysfunction.
Is genetic counseling necessary before the test?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
Can this test detect all mutations in the AAAS gene?
The test uses NGS technology for high sensitivity, but may not detect all possible variants or deep intronic mutations.
What should I do if the test result is positive?
A positive result confirms the diagnosis; consult a healthcare professional for management and genetic counseling for family planning.
Is the test covered by insurance schemes like PMJAY?
Coverage under schemes like PMJAY is not standard; check with the specific scheme for eligibility.
How accurate is the NGS Genetic Test for AAAS syndrome?
The test has high accuracy for detecting pathogenic variants, but accuracy depends on sample quality and variant type.
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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