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SCA-3 (Spinocerebellar Ataxia): ATXN3 Gene Mutation Test

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SCA-3 (Spinocerebellar Ataxia): ATXN3 Gene Mutation Test

Short Name: SCA-3 ATXN3 Mutation Test

Also known as: Machado-Joseph disease, SCA-3

SCA-3 (Spinocerebellar Ataxia): ATXN3 Gene Mutation Test test available at DNA Labs India for ₹4,000. Uses PCR, Fragment Analysis on Whole Blood samples. Results in Reports available by Saturday for samples received by Tuesday 11 am.. Free home collection in 300+ cities across India.

Genetic Mutation TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the ATXN3 gene associated with Spinocerebellar Ataxia Type 3 (SCA-3).

Test Code
1408
Price
₹4,000
Sample Type
Whole Blood
Result Time
Reports available by Saturday for samples received by Tuesday 11 am.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

Complete the Genomics Clinical Information Requisition Form (Form 20) prior to sample collection.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn from a vein in your arm.

Step 3

Report Delivery

Apply pressure to the site to stop bleeding.

Timeline: Reports available by Saturday for samples received by Tuesday 11 am.

Patient Instructions

1
Before the Test:No special preparation required, but ensure the requisition form is completed.
2
During the Test:Blood sample collection takes a few minutes.
3
After the Test:You can resume normal activities immediately.

About This Test

Who Should Get This Test

To detect mutations in the ATXN3 gene associated with Spinocerebellar Ataxia Type 3 (SCA-3).

How to Prepare

  • Collect 4 mL (minimum 2 mL) whole blood in a lavender top (EDTA) tube.
  • Ship refrigerated. Do not freeze.
  • Ensure proper labeling and documentation.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through genetic testing can help in managing symptoms and planning for the future."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume4 mL (2 mL min.)
ContainerLavender top (EDTA) tube
Collection MethodVenipuncture

Sample Stability

Room Temperature
Refrigerated
Frozen
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples.
  • Improper sample container.
  • Insufficient sample volume.

Understanding Your Results

Results indicate the presence or absence of CAG repeat expansion in the ATXN3 gene.
📊

Normal

No pathogenic CAG repeat expansion detected. SCA-3 is unlikely.

📊

Pathogenic

CAG repeat expansion detected, consistent with SCA-3 diagnosis.

⚠️ When to Consult a Doctor:

If you have symptoms of ataxia or a family history of SCA-3, consult a neurologist for evaluation and genetic testing.

Limitations

  • ⚠Detects only ATXN3 gene mutation; other genetic ataxias not covered.

Risks & Considerations

  • ●Minor bruising at puncture site.
  • ●Rare risk of infection.

Frequently Asked Questions

What is SCA-3?
SCA-3, or Spinocerebellar Ataxia Type 3, also known as Machado-Joseph disease, is an inherited neurodegenerative disorder caused by a mutation in the ATXN3 gene, leading to progressive loss of coordination and balance.
What causes SCA-3?
SCA-3 is caused by a CAG trinucleotide repeat expansion in the ATXN3 gene on chromosome 14, which results in the production of an abnormal ataxin-3 protein that damages nerve cells.
What are the symptoms of SCA-3?
Symptoms include loss of coordination and balance, tremors, speech difficulties, difficulty swallowing, problems with eye movements, weakness in limbs, and numbness or tingling in extremities.
How is SCA-3 diagnosed?
Diagnosis involves a combination of physical examination, medical history, and genetic testing. A genetic test can confirm the ATXN3 gene mutation, and other tests like MRI or EMG may be used.
What is the ATXN3 gene mutation test?
This test detects CAG repeat expansions in the ATXN3 gene using PCR and fragment analysis to diagnose SCA-3.
What sample is required for the test?
A blood sample of 4 mL (minimum 2 mL) in a lavender top (EDTA) tube, shipped refrigerated without freezing.
How much does the test cost?
The cost of the SCA-3 ATXN3 gene mutation test at DNA Labs India is INR 4000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What is the turnaround time for results?
If sample is collected by Tuesday 11 am, reports are available by Saturday.
How accurate is the test?
The test uses PCR and fragment analysis, which are reliable methods for detecting ATXN3 mutations, but accuracy depends on sample quality and laboratory standards.
Can SCA-3 be treated?
There is no cure for SCA-3, but early diagnosis allows for symptomatic management and supportive care to improve quality of life.
Who should get tested for SCA-3?
Individuals with symptoms of ataxia, a family history of SCA-3, or those seeking genetic counseling should consider testing.
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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