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DNA Labs India

SETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test

Short Name: SETX AOA2 Genetic Test

Also known as: AOA2, Ataxia with Oculomotor Apraxia Type 2, Senataxin-related Ataxia

SETX Gene Ataxia-Oculomotor Apraxia Type 2 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.

Genetic Test🏠 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 detect mutations in the SETX gene that cause Ataxia-Oculomotor Apraxia Type 2 (AOA2) for accurate diagnosis and management.

Test Code
1518
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

No special preparation required. Provide clinical history and family pedigree chart.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test and implications.
2
During the Test:Sample collection procedure as described.
3
After the Test:Discuss results with a genetic counselor or physician.

About This Test

Who Should Get This Test

To detect mutations in the SETX gene that cause Ataxia-Oculomotor Apraxia Type 2 (AOA2) for accurate diagnosis and management.

How to Prepare

  • Collect blood in an EDTA tube
  • For FTA card, apply one drop of blood
  • Label samples correctly with patient details
  • Transport to lab at ambient temperature

Doctor's Notes

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

"Genetic testing for AOA2 is essential for confirming diagnosis, understanding prognosis, and informing family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA card application

Sample Stability

Blood in EDTA tube
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SETX gene. A positive result confirms AOA2, while a negative result may require further evaluation.
Positive: Pathogenic variant detected, consistent with AOA2 diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If experiencing symptoms of AOA2 or have a family history of the disorder, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠False negatives possible due to technical limitations
  • ⚠Does not assess other genes or conditions

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of test results

Interfering Factors

  • ●DNA quality and quantity
  • ●Sample hemolysis
  • ●Contamination during sample processing

Compare With Similar Tests

TestSETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic TestFriedreich's Ataxia Genetic TestSpinocerebellar Ataxia Panel
ComparisonSETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test

Frequently Asked Questions

What is the SETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the SETX gene, which cause Ataxia-Oculomotor Apraxia Type 2 (AOA2).
Who should get this test?
Individuals showing symptoms of AOA2 such as movement difficulties, eye movement problems, or those with a family history of the disorder.
What are the symptoms of AOA2?
Symptoms include difficulty with movement and coordination, problems with eye movements, speech difficulties, muscle weakness and wasting, and sensory problems.
How is the test performed?
The test involves collecting a blood sample or extracted DNA, which is analyzed using NGS technology to identify mutations in the SETX gene.
What is the cost of the test?
The cost at DNA Labs India is INR 20,000, which includes genetic counseling and support.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Reports are typically delivered in 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a pathogenic mutation in the SETX gene, confirming AOA2. A negative result means no such mutations were detected, but clinical correlation is advised.
Is the test covered by insurance?
Coverage depends on the insurance provider. It is advisable to check with your insurer for specific coverage details.
Can this test detect all mutations in the SETX gene?
The test is comprehensive but may not detect all possible mutations due to technical limitations. It is designed to identify known pathogenic variants.
What are the risks of the test?
The risks are minimal, similar to a standard blood draw, including slight bruising or infection at the puncture site.
How do I prepare for the test?
No special preparation is required. Provide your clinical history and family pedigree chart as part of pre-test information.
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

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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