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SCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation Test

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SCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation Test

Short Name: SCA-7 ATXN7 Gene Mutation Test

Also known as: Spinocerebellar Ataxia Type 7, SCA7, ATXN7 Gene Test

SCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation Test test available at DNA Labs India for ₹4,000. Uses PCR, Fragment Analysis on Whole blood samples. Results in Results typically available within 4-5 working days.. Free home collection in 300+ cities across India.

Genetic Mutation AnalysisAdults🏠 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 ATXN7 gene for diagnosis of spinocerebellar ataxia type 7, especially in individuals with symptoms or family history.

Test Code
1410
Price
₹4,000
Sample Type
Whole blood
Result Time
Results typically available within 4-5 working days.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure using EDTA tube.

Step 3

Report Delivery

Label the tube properly and store refrigerated. Do not freeze.

Timeline: Results typically available within 4-5 working days.

Patient Instructions

1
Before the Test:No specific preparation required, but ensure form is filled.
2
During the Test:Simple blood draw.
3
After the Test:Resume normal activities. Monitor for symptoms.

About This Test

Who Should Get This Test

To detect mutations in the ATXN7 gene for diagnosis of spinocerebellar ataxia type 7, especially in individuals with symptoms or family history.

How to Prepare

  • Collect 4 mL whole blood in EDTA tube
  • Ship refrigerated
  • Do not freeze
  • Include completed Form 20

Doctor's Notes

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

"This genetic test is crucial for confirming SCA-7 diagnosis and guiding management strategies for patients with neurological symptoms."

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 Temperature6 hours
Refrigerated1 week
FrozenNot applicable
Sample Rejection Criteria:
  • Sample hemolyzed
  • Incorrect container
  • Missing Form 20
  • Insufficient volume

Understanding Your Results

Results indicate the presence or absence of expanded CAG repeats in the ATXN7 gene. Expanded repeats confirm diagnosis of SCA-7.
📊

Normal

No expanded repeats detected, low risk for SCA-7

📊

Expanded

Pathogenic repeats present, confirms SCA-7 diagnosis

⚠️ When to Consult a Doctor:

If you experience symptoms such as coordination problems, vision loss, or have a family history of ataxia, consult a neurologist for evaluation and possible testing.

Limitations

  • ⚠Test only detects mutations in the ATXN7 gene
  • ⚠May not detect all types of mutations
  • ⚠Results should be interpreted in clinical context

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk

Interfering Factors

  • ●Hemolyzed sample
  • ●Contaminated sample
  • ●Insufficient sample volume

Compare With Similar Tests

TestSCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation TestSCA-1 Gene TestSCA-2 Gene TestSCA-3 Gene TestGeneral Ataxia Panel
ComparisonSCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation Test

Frequently Asked Questions

What is SCA-7?
SCA-7, or spinocerebellar ataxia type 7, is a genetic disorder that causes progressive problems with movement and vision due to mutations in the ATXN7 gene.
What are the symptoms of SCA-7?
Common symptoms include difficulty with coordination and balance, vision loss, speech and swallowing problems, tremors, and muscle stiffness.
How is SCA-7 diagnosed?
Diagnosis is confirmed through genetic testing, specifically the ATXN7 gene mutation test, along with clinical examination and family history.
What is the cost of the ATXN7 gene mutation test?
The test costs INR 4000 at DNA Labs India, with free home sample collection available in many cities.
Is home collection available for this test?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 4-5 working days after sample collection.
What sample is required for the test?
A 4 mL whole blood sample in an EDTA (lavender top) tube is required.
Is fasting required for this test?
No, fasting is not required, but the Genomics Clinical Information Requisition Form must be filled.
Who should get tested for SCA-7?
Individuals with symptoms of ataxia, vision loss, or a family history of SCA-7 should consider testing.
What does a positive result mean?
A positive result indicates the presence of expanded CAG repeats in the ATXN7 gene, confirming a diagnosis of SCA-7.
Can SCA-7 be treated?
There is no cure for SCA-7, but management focuses on symptom relief, physical therapy, and supportive care.
Where can I book this test?
You can book the test online through DNA Labs India's website or contact their helpline for assistance.
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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