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TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic Test

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TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic Test

Short Name: TTBK2 SCA11 NGS Test

Also known as: Spinocerebellar ataxia type 11 genetic test, TTBK2 gene analysis, SCA11 DNA test

TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation 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.

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 NGS genetic test is to diagnose Spinocerebellar ataxia type 11 (SCA11) by detecting mutations in the TTBK2 gene. It aids in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
1834
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), Sanger Sequencing for confirmation
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications. Provide detailed clinical and family history.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

Blood sample collected via standard venipuncture procedure. For FTA card, a single drop of blood is applied.

Step 3

Report Delivery

Sample transported to laboratory under controlled conditions. Await report and consult geneticist for result interpretation.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss test purpose, benefits, and limitations. Provide informed consent.
2
During the Test:Sample collection takes a few minutes. Procedure is minimally invasive with low risk.
3
After the Test:Report delivery in 3 to 4 weeks. Follow-up with healthcare provider to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to diagnose Spinocerebellar ataxia type 11 (SCA11) by detecting mutations in the TTBK2 gene. It aids in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • No fasting required
  • Ensure proper identification of patient
  • Use sterile collection equipment
  • Label samples correctly

Doctor's Notes

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

"Early genetic testing using NGS is essential for definitive diagnosis of SCA11, aiding in management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory guidelines
ContainerStandard blood collection tube (EDTA)
Collection MethodVenipuncture for blood sample

Sample Stability

Blood at room temperature48 hours
Extracted DNAStable for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate whether pathogenic mutations in the TTBK2 gene are detected. Genetic counseling is essential to understand the implications for diagnosis, prognosis, and family risk.
📊

Pathogenic variant detected

Confirms diagnosis of SCA11. Genetic counseling advised for management and family testing.

📊

No pathogenic variant detected

SCA11 unlikely based on genetic analysis. Clinical evaluation recommended for other causes.

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if you experience symptoms like unsteady gait, tremors, or speech difficulties, or if there is a family history of spinocerebellar ataxia.

Limitations

  • ⚠May not detect all rare mutations or structural variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection or processing
  • ●Hemolyzed blood samples

Compare With Similar Tests

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Frequently Asked Questions

What is TTBK2 Gene Spinocerebellar ataxia type 11?
It is a genetic disorder caused by mutations in the TTBK2 gene, leading to progressive cerebellar degeneration and coordination issues.
What are the common symptoms of SCA11?
Symptoms include unsteady gait, tremors, speech difficulties, abnormal eye movements, and muscle weakness.
How is SCA11 diagnosed?
Diagnosis involves clinical evaluation, imaging studies like MRI, and definitive genetic testing such as NGS for TTBK2 gene mutations.
What is the cost of the NGS genetic test for SCA11?
The test costs INR 20,000 at DNA Labs India, with home collection available.
Is genetic testing for SCA11 covered by insurance?
Often not covered; check with your insurer. DNA Labs India offers financial assistance programs.
How long does it take to get test results?
Results are typically available in 3 to 4 weeks.
What sample is required for the test?
A blood sample, extracted DNA, or a drop of blood on an FTA card is accepted.
Is fasting required before the test?
No, fasting is not required.
Can I get the test done at home?
Yes, free home sample collection is available in numerous cities across India.
What is the accuracy of the NGS genetic test?
NGS provides high accuracy for detecting mutations in the TTBK2 gene, but genetic counseling is recommended for interpretation.
Who should consider this test?
Individuals with symptoms of SCA11 or a family history of spinocerebellar ataxia should consider genetic testing.
What happens after the test?
You will receive a clinical report along with raw data files. A genetic counselor will help interpret results and plan next steps.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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