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SCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test

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SCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test

Short Name: SCA-2 ATXN2 Gene Mutation Test

Also known as: SCA2, Spinocerebellar Ataxia Type 2, ATXN2 Mutation Test

SCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test test available at DNA Labs India for ₹4,925. Uses PCR, Fragment Analysis on Whole blood samples. Results in Results typically available within 5 days from sample receipt.. Free home collection in 300+ cities across India.

Genetic TestAdults (Typically 30-50 years)🏠 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 this test is to detect mutations in the ATXN2 gene that cause Spinocerebellar Ataxia Type 2. It aids in definitive diagnosis, differentiates SCA-2 from other ataxias, enables genetic counseling, and facilitates early intervention and family planning.

Test Code
1402
Price
₹4,925
Sample Type
Whole blood
Result Time
Results typically available within 5 days from sample receipt.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting required.

Method: Venipuncture

Step 2

Laboratory Analysis

A healthcare professional will collect 4 mL of whole blood via venipuncture into an EDTA tube.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample refrigerated (do not freeze) and transport promptly to the lab.

Timeline: Results typically available within 5 days from sample receipt.

Patient Instructions

1
Before the Test:No special preparation needed. Ensure requisition form is filled.
2
During the Test:Simple blood draw procedure, taking a few minutes.
3
After the Test:Resume normal activities. Mild soreness at puncture site may occur.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ATXN2 gene that cause Spinocerebellar Ataxia Type 2. It aids in definitive diagnosis, differentiates SCA-2 from other ataxias, enables genetic counseling, and facilitates early intervention and family planning.

How to Prepare

  • Collect 4 mL (2 mL min.) whole blood in a lavender top (EDTA) tube.
  • Ship refrigerated. DO NOT FREEZE.
  • Include the completed Genomics Clinical Information Requisition Form (Form 20).

Doctor's Notes

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

"This test is essential for diagnosing hereditary ataxias and providing genetic counseling to affected families, especially in populations with higher prevalence."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume4 mL (2 mL minimum)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hours
Refrigerator: 1 week
Frozen: Not applicable
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient volume (<2 mL)
  • Missing or incomplete requisition form
  • Improper storage conditions

Understanding Your Results

Results indicate the presence and size of CAG repeats in the ATXN2 gene. Interpretation should be done by a genetics professional in the context of clinical symptoms and family history.
Normal result: No pathogenic expansion detected (<32 repeats).
Intermediate result: 32-33 repeats, may require monitoring or further testing.
Pathogenic result: >33 repeats, confirms diagnosis of SCA-2.
Genetic counseling is recommended for positive results and at-risk family members.
⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms such as progressive balance issues, tremors, slurred speech, or have a family history of ataxia. Early diagnosis can aid in management and genetic counseling.

Limitations

  • ⚠This test detects CAG repeat expansions in ATXN2 but may not identify all rare mutations.
  • ⚠It does not predict disease severity or onset age precisely.
  • ⚠Results should be correlated with clinical findings and family history.

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or fainting
  • ●Emotional impact of genetic results; counseling available

Interfering Factors

  • ●Contaminated or hemolyzed blood samples
  • ●Improper sample storage or transport
  • ●Recent blood transfusions may affect results

Compare With Similar Tests

TestSCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation TestSCA-1 (ATXN1) Mutation TestSCA-3 (ATXN3) Mutation TestFriedreich's Ataxia TestComprehensive Ataxia Panel
ComparisonSCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test

Frequently Asked Questions

What is SCA-2?
SCA-2, or Spinocerebellar Ataxia Type 2, is a hereditary neurological disorder caused by mutations in the ATXN2 gene, leading to progressive coordination problems.
How is the test performed?
The test involves collecting a blood sample, which is analyzed using PCR and fragment analysis to detect CAG repeat expansions in the ATXN2 gene.
What do the results mean?
Results show the number of CAG repeats. Normal is <32, intermediate 32-33, and pathogenic >33 repeats, confirming SCA-2 diagnosis.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort, but it is generally quick and safe.
How long does it take to get results?
Results are typically available within 5 days from sample receipt at the laboratory.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection in many cities across India for online bookings.
What is the cost of the test?
The test costs INR 4925, which includes sample collection, analysis, and report delivery.
Who should get tested?
Individuals with symptoms of ataxia, a family history of SCA-2, or those seeking genetic counseling should consider testing.
Is genetic counseling provided?
Yes, guidance on interpreting results and next steps is available through DNA Labs India.
Are there any risks to the test?
Risks are minimal, similar to any blood draw, such as bruising or infection risk. Emotional support is recommended for positive results.
How accurate is the test?
The test uses validated PCR methods with high accuracy for detecting ATXN2 mutations, but results should be correlated clinically.
Can the test predict disease severity?
No, the test confirms the mutation but cannot precisely predict the age of onset or severity of symptoms.
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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