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ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant NGS Genetic Test

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ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant NGS Genetic Test

Short Name: ATXN2 Gene SCA2 Test

Also known as: Spinocerebellar Ataxia Type 2, SCA2, ATXN2-related ataxia

ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant 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 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

The purpose of the ATXN2 Gene Spinocerebellar Ataxia Type 2 NGS Genetic Test is to diagnose SCA2 by identifying pathogenic mutations in the ATXN2 gene. This confirms the disease, guides treatment strategies, and informs at-risk family members about their genetic status for informed decision-making.

Test Code
4573
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

No specific preparation required. Inform the healthcare provider about any medications, medical conditions, or family history of genetic disorders.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture. For FTA card collection, a drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities immediately after sample collection.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counseling session to discuss family history, test implications, and draw a pedigree chart of affected family members.
2
During the Test:Blood sample collection for DNA extraction and next-generation sequencing analysis of the ATXN2 gene.
3
After the Test:Review results with a genetic counselor to understand implications, plan for management, and discuss options for family members.

About This Test

Who Should Get This Test

The purpose of the ATXN2 Gene Spinocerebellar Ataxia Type 2 NGS Genetic Test is to diagnose SCA2 by identifying pathogenic mutations in the ATXN2 gene. This confirms the disease, guides treatment strategies, and informs at-risk family members about their genetic status for informed decision-making.

How to Prepare

  • Ensure proper patient identification and consent
  • Use sterile equipment and follow aseptic techniques
  • Label the sample correctly with patient details
  • Transport the sample at ambient temperature as specified

Doctor's Notes

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

"Early genetic testing for SCA2 is crucial for family planning and management of symptoms. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect sample type or container
  • Insufficient sample volume for testing

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the ATXN2 gene. A positive result confirms SCA2, while a negative result may require further clinical evaluation if symptoms persist.
📊

Positive for pathogenic mutation

Confirms diagnosis of Spinocerebellar Ataxia Type 2. Genetic counseling is recommended for family planning and management.

📊

Negative for pathogenic mutation

SCA2 is unlikely based on genetic analysis. Consider other causes if symptoms are present and consult a neurologist.

📊

Variant of uncertain significance

A genetic variant was detected but its clinical significance is unknown. Further testing and clinical correlation are needed.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you have a family history of SCA2, experience symptoms like coordination problems, balance issues, or slurred speech, or if you receive a positive test result for guidance on management and family testing.

Limitations

  • ⚠May not detect all types of genetic variants or mutations
  • ⚠Cannot predict disease severity, age of onset, or progression rate
  • ⚠Requires genetic counseling for accurate interpretation and family implications

Risks & Considerations

  • ●Minor pain, bruising, or swelling at the blood draw site
  • ●Very low risk of infection or hematoma

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Insufficient DNA quality or quantity
  • ●Contamination during sample collection or handling

Frequently Asked Questions

What is the ATXN2 Gene SCA2 Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the ATXN2 gene, which causes Spinocerebellar Ataxia Type 2, an autosomal dominant disorder affecting coordination and movement.
Why is this test recommended?
The test is recommended for individuals with a family history of SCA2, symptoms like balance problems, slurred speech, or tremors, to confirm diagnosis and guide management.
How is the test performed?
A blood sample is collected, and DNA is extracted for analysis using NGS technology to identify mutations in the ATXN2 gene.
What is the cost of the test?
The cost is INR 20000, which includes sample collection, genetic analysis, and report generation. Free home collection is available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What does a positive result mean?
A positive result confirms a diagnosis of SCA2, indicating the presence of a pathogenic mutation in the ATXN2 gene. Genetic counseling is advised for next steps.
Can the test predict disease severity?
No, the test confirms the genetic mutation but cannot predict the severity, age of onset, or progression of symptoms, which vary among individuals.
Is genetic counseling included?
Yes, a genetic counseling session is included to discuss family history, test implications, and results interpretation before and after testing.
Are there any risks associated with the test?
The test involves a standard blood draw, which may cause minor pain or bruising. There are no significant risks beyond those of routine blood collection.
How accurate is the test?
The NGS-based test is highly accurate for detecting mutations in the ATXN2 gene, but it may not identify all genetic variants. Accuracy depends on sample quality and laboratory standards.
What should I do after receiving the results?
Consult with a genetic counselor or neurologist to understand the results, discuss management options, and consider family testing if applicable.
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.

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