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SCA-6 (Spinocerebellar Ataxia): CACNA1A Gene Mutation Test

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SCA-6 (Spinocerebellar Ataxia): CACNA1A Gene Mutation Test

Short Name: SCA-6 Gene Mutation Test

Also known as: Spinocerebellar Ataxia Type 6 Test, CACNA1A Mutation Test, SCA-6 Genetic Test

SCA-6 (Spinocerebellar Ataxia): CACNA1A Gene Mutation Test test available at DNA Labs India for ₹4,000. Uses PCR, Fragment Analysis on Whole blood samples. Results in Sample collected by Tuesday 11 AM, report available on Saturday.. Free home collection in 300+ cities across India.

Genetic TestAdults🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the SCA-6 genetic test is to detect mutations in the CACNA1A gene, which are responsible for Spinocerebellar Ataxia Type 6. This test helps in confirming diagnosis, guiding treatment decisions, and informing genetic counseling and family planning.

Test Code
1409
Price
₹4,000
Sample Type
Whole blood
Result Time
Sample collected by Tuesday 11 AM, report available on Saturday.
Fasting Required
No
Method
PCR, Fragment Analysis
Step 1

Sample Collection

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

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture.

Step 3

Report Delivery

Sample will be processed and shipped refrigerated for analysis.

Timeline: Sample collected by Tuesday 11 AM, report available on Saturday.

Patient Instructions

1
Before the Test:Complete the required forms and consult with your physician.
2
During the Test:Blood sample collection takes a few minutes.
3
After the Test:Report will be available within the turnaround time.

About This Test

Who Should Get This Test

The purpose of the SCA-6 genetic test is to detect mutations in the CACNA1A gene, which are responsible for Spinocerebellar Ataxia Type 6. This test helps in confirming diagnosis, guiding treatment decisions, and informing genetic counseling and family planning.

How to Prepare

  • Ship refrigerated. DO NOT FREEZE.
  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Use 4 mL whole blood in a Lavender top (EDTA) tube.

Doctor's Notes

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

"Genetic testing for SCA-6 is essential for confirming diagnosis, especially in families with a history of ataxia. It aids in genetic counseling and management planning."

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 sample
  • Insufficient sample volume
  • Missing or incomplete requisition form
  • Improper sample storage

Understanding Your Results

The SCA-6 genetic test detects the presence of CAG trinucleotide repeat expansions in the CACNA1A gene, which are associated with Spinocerebellar Ataxia Type 6.
📊

No mutation detected

Normal result; SCA-6 is unlikely based on this gene, but clinical correlation is needed.

📊

Mutation detected

Abnormal result; confirms diagnosis of SCA-6. Genetic counseling is recommended.

⚠️ When to Consult a Doctor:

If you experience symptoms of ataxia or have a family history of spinocerebellar ataxia, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • Test only detects mutations in CACNA1A gene; does not rule out other forms of ataxia.
  • May not detect all possible variants of the gene.
  • Results should be interpreted in conjunction with clinical symptoms and family history.

Risks & Considerations

  • Bruising at puncture site
  • Infection (rare)
  • Slight pain during blood draw

Interfering Factors

  • Hemolysis of blood sample
  • Improper storage conditions
  • Contaminated sample

Frequently Asked Questions

What is SCA-6?
SCA-6, or Spinocerebellar Ataxia Type 6, is a rare genetic disorder caused by a mutation in the CACNA1A gene, leading to progressive coordination and balance problems.
What causes SCA-6?
SCA-6 is caused by a CAG trinucleotide repeat expansion in the CACNA1A gene on chromosome 19p.
What are the symptoms of SCA-6?
Common symptoms include difficulty walking, coordination problems, abnormal eye movements, headaches, vertigo, and dizziness.
How is SCA-6 diagnosed?
Diagnosis involves clinical evaluation, family history, and genetic testing to identify the CACNA1A gene mutation.
What is the cost of SCA-6 testing in India?
The cost is INR 4000 at DNA Labs India, with free home sample collection available.
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 the report?
Sample collected by Tuesday 11 AM, report available on Saturday.
What sample is required for the test?
4 mL of whole blood in an EDTA tube.
Is fasting required for this test?
No fasting is required, but a duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Can this test detect other types of ataxia?
This test specifically detects CACNA1A mutations for SCA-6; other ataxia tests are available for different types.
What should I do if I test positive?
Consult a neurologist or geneticist for further management and genetic counseling.
Is genetic counseling recommended?
Yes, genetic counseling is recommended to understand the implications for you and your family.
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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