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ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic Test

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ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic Test

Short Name: SCA1 NGS Test

Also known as: SCA1, Spinocerebellar ataxia type 1, ATXN1-related ataxia

ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 TestAdults🏠 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 diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting mutations in the ATXN1 gene using next-generation sequencing technology. It helps in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
4565
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session is recommended. Provide clinical history and family pedigree.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample sent to laboratory for analysis. Results available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor. Provide informed consent.
2
During the Test:Sample collection procedure as per instructions.
3
After the Test:Await results and follow up with healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting mutations in the ATXN1 gene using next-generation sequencing technology. It helps in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Fast not required
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"As an Ob-Gyn, I often encounter patients with neurological symptoms that may have a genetic basis. This test is crucial for diagnosing SCA1, especially in families with a history of ataxia, to provide appropriate genetic counseling and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries based on sample type
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood samples

Sample Stability

Blood in EDTA tube: stable for 7 days at room temperature
FTA card: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ATXN1 gene.
📊

Normal

No pathogenic variant detected. SCA1 unlikely based on genetic testing.

📊

Pathogenic variant detected

Diagnosis of SCA1 confirmed. Genetic counseling and management recommended.

⚠️ When to Consult a Doctor:

If symptoms of ataxia are present, or if there is a family history of SCA1, consult a neurologist or geneticist for evaluation and testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require clinical correlation
  • ⚠Cannot predict disease severity or onset age precisely

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of results
  • ●Potential for uncertain results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination
  • ●Technical errors in sequencing

Frequently Asked Questions

What is ATXN1 Gene Spinocerebellar ataxia type 1?
SCA1 is a genetic disorder caused by mutations in the ATXN1 gene, leading to progressive cerebellar ataxia and other neurological symptoms.
What are the common symptoms of SCA1?
Symptoms include balance problems, slurred speech, difficulty walking, eye movement abnormalities, and cognitive issues, typically starting in early adulthood.
How is SCA1 diagnosed?
Diagnosis involves clinical evaluation, neuroimaging like MRI, and genetic testing to detect mutations in the ATXN1 gene.
What is NGS genetic testing?
Next-generation sequencing (NGS) is an advanced technology that allows for rapid and accurate analysis of multiple genes, including ATXN1, for disease-causing variants.
What is the cost of the ATXN1 Gene SCA1 NGS Test?
The test costs INR 20000 at DNA Labs India, which includes sample collection, analysis, and reporting.
Is genetic testing for SCA1 covered by insurance?
Coverage varies by insurance provider. It is advisable to check with your insurer regarding coverage for genetic tests.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What type of sample is required for the test?
The test can be performed on blood samples, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
What does a positive test result indicate?
A positive result confirms the presence of a pathogenic variant in the ATXN1 gene, diagnosing SCA1. Genetic counseling is recommended.
What should I do after receiving the test results?
Consult with a healthcare provider or genetic counselor to understand the implications and discuss management options.
Are there any risks associated with genetic testing?
Risks are minimal, such as discomfort from blood draw, but there may be psychological impacts. Genetic counseling helps address these concerns.
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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