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SCA-8 (Spinocerebellar Ataxia): ATXN8OS & ATXN8 Gene Mutation Test

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SCA-8 (Spinocerebellar Ataxia): ATXN8OS & ATXN8 Gene Mutation Test

Also known as: Spinocerebellar Ataxia Type 8, SCA8

SCA-8 (Spinocerebellar Ataxia): ATXN8OS & ATXN8 Gene Mutation Test test available at DNA Labs India for ₹7,500. Uses PCR, Fragment Analysis on Whole Blood samples. Results in Sample received by Tuesday 11 am; report available by Saturday.. Free home collection in 300+ cities across India.

Genetic Mutation TestAdult🏠 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

To detect mutations in the ATXN8OS and ATXN8 genes, specifically identifying expansions of CTG and CAG trinucleotide repeats, for the diagnosis of Spinocerebellar Ataxia Type 8 (SCA-8).

Test Code
1404
Price
₹7,500
Sample Type
Whole Blood
Result Time
Sample received by Tuesday 11 am; report available by Saturday.
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 is required.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm using standard phlebotomy techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding and avoid strenuous activity with the arm for a few hours.

Timeline: Sample received by Tuesday 11 am; report available by Saturday.

Patient Instructions

1
Before the Test:Complete the Genomics Clinical Information Requisition Form (Form 20). No fasting required.
2
During the Test:A blood sample will be collected via venipuncture.
3
After the Test:Monitor the puncture site for any discomfort. Results will be available in the specified timeline.

About This Test

Who Should Get This Test

To detect mutations in the ATXN8OS and ATXN8 genes, specifically identifying expansions of CTG and CAG trinucleotide repeats, for the diagnosis of Spinocerebellar Ataxia Type 8 (SCA-8).

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Collect 4 mL (2 mL min.) whole blood in a Lavender top (EDTA) tube.
  • Ship refrigerated; do not freeze.
  • Label the sample correctly with patient details.

Doctor's Notes

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

"Early genetic diagnosis of SCA-8 through this test is crucial for accurate management, genetic counseling, and family planning for affected individuals."

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
Refrigerator
Frozen
Sample Rejection Criteria:
  • Sample without proper requisition form
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect tube type

Understanding Your Results

Results indicate the presence or absence of trinucleotide repeat expansions in the ATXN8OS and ATXN8 genes. Expanded repeats are associated with SCA-8.
📊

Normal

No significant expansion detected in CTG or CAG repeats; SCA-8 mutation unlikely.

📊

Abnormal

Expanded CTG or CAG repeats detected; consistent with a diagnosis of SCA-8. Correlation with clinical symptoms is essential.

📊

Inconclusive

Results unclear; repeat testing or additional genetic counseling may be recommended.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you experience symptoms such as unsteady gait, slurred speech, or balance issues, or if you have a family history of ataxia. Follow up after receiving test results for interpretation and management.

Limitations

  • ⚠Test only detects mutations in ATXN8OS and ATXN8 genes; other forms of ataxia may not be identified.
  • ⚠Does not predict disease severity or progression.
  • ⚠Results require clinical correlation for diagnosis.

Risks & Considerations

  • ●Minor pain or bruising at the needle site
  • ●Rare risk of infection
  • ●Fainting or dizziness during blood draw

Interfering Factors

  • ●Contaminated or improperly stored sample
  • ●Hemolyzed blood sample
  • ●Use of non-EDTA tube

Frequently Asked Questions

What is SCA-8?
SCA-8 (Spinocerebellar Ataxia Type 8) is a rare genetic disorder caused by mutations in the ATXN8OS and ATXN8 genes, leading to problems with movement, balance, and coordination.
What are the common symptoms of SCA-8?
Symptoms include unsteady gait, tremors, slurred speech, difficulty with balance and coordination, nystagmus, leg spasticity, and reduced vibratory sensation.
At what age do symptoms of SCA-8 typically appear?
Symptoms usually manifest in adulthood, typically between ages 30 and 50, though onset can range from 20 to 65 years.
How is SCA-8 diagnosed?
Diagnosis involves a combination of physical examination, medical history, and genetic testing to detect mutations in the ATXN8OS and ATXN8 genes.
What does the SCA-8 genetic test involve?
The test analyzes a blood sample using PCR and fragment analysis to identify expansions of CTG and CAG trinucleotide repeats in the ATXN8OS and ATXN8 genes.
What is the cost of the SCA-8 test in India?
The cost is INR 7500, which may include home sample collection in many cities across India.
Is home collection available for this test?
Yes, free home sample collection is available for online bookings in numerous cities including Mumbai, Delhi, Bangalore, and many others.
What sample is required for the SCA-8 test?
4 mL (2 mL min.) of whole blood in a Lavender top (EDTA) tube is required. The sample should be shipped refrigerated and not frozen.
How long does it take to get results?
If the sample is received by Tuesday 11 am, reports are typically available by Saturday.
Is the SCA-8 test accurate?
Genetic testing using PCR and fragment analysis is a reliable method for detecting mutations associated with SCA-8, but results should be interpreted by a healthcare professional.
Who should consider getting the SCA-8 test?
Individuals experiencing symptoms of ataxia, those with a family history of SCA-8 or related disorders, or for genetic counseling purposes.
What is the treatment for SCA-8?
There is no cure for SCA-8; management focuses on symptom relief, physical therapy, and supportive care. Genetic counseling is recommended for families.
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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