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TBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test

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TBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test

Short Name: SCA17 NGS Test

Also known as: Spinocerebellar Ataxia Type 17, SCA17, TBP Gene Mutation Test

TBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 TestAll Ages🏠 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 diagnose Spinocerebellar ataxia type 17 by identifying pathogenic mutations in the TBP gene using Next-Generation Sequencing (NGS) technology.

Test Code
1836
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
NGS Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required.

Method: Blood Draw or DNA Extraction

Step 2

Laboratory Analysis

Standard venipuncture procedure for blood sample collection or DNA extraction from provided sample.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory under appropriate conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to understand the implications of the test and discuss family history.
2
During the Test:A blood sample is drawn, or extracted DNA is provided, and sent to the lab for NGS analysis.
3
After the Test:Results are available in 3 to 4 weeks and can be accessed online or via email. Genetic counseling is provided to interpret the results.

About This Test

Who Should Get This Test

To diagnose Spinocerebellar ataxia type 17 by identifying pathogenic mutations in the TBP gene using Next-Generation Sequencing (NGS) technology.

How to Prepare

  • Ensure proper patient identification and sample labeling
  • Use sterile collection tubes and avoid hemolysis
  • Follow DNA Labs India guidelines for sample storage and transport

Doctor's Notes

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

"Early genetic testing for SCA17 can guide management strategies and family planning, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Draw or DNA Extraction

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improperly labeled or unlabeled samples
  • Contaminated or hemolyzed samples

Understanding Your Results

The results of the TBP Gene NGS Genetic Test indicate the presence or absence of mutations associated with Spinocerebellar ataxia type 17.
Positive Result: Pathogenic mutation detected in the TBP gene, confirming diagnosis of SCA17.
Negative Result: No pathogenic mutation detected, reducing the likelihood of SCA17.
Variant of Uncertain Significance (VUS): A genetic variant identified but clinical significance unknown; further testing may be recommended.
⚠️ When to Consult a Doctor:

If you experience symptoms of SCA17 such as unsteady gait, tremors, or memory loss, or if there is a family history of the disorder, consult a neurologist or genetic specialist.

Limitations

  • ⚠May not detect all possible mutations in the TBP gene
  • ⚠Results must be interpreted in conjunction with clinical symptoms and family history
  • ⚠Not recommended for prenatal diagnosis without additional counseling

Risks & Considerations

  • ●Minimal risk from blood draw such as bruising or infection
  • ●Genetic results may have emotional and familial implications

Interfering Factors

  • ●DNA degradation due to improper sample handling
  • ●Contamination during collection or processing
  • ●Insufficient sample quantity

Compare With Similar Tests

TestTBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic TestSCA1 NGS TestSCA2 NGS TestFRDA Genetic TestALS Genetic Test
ComparisonTBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is Spinocerebellar ataxia type 17 (SCA17)?
SCA17 is a rare genetic disorder caused by mutations in the TBP gene, leading to progressive neurological symptoms.
What causes SCA17?
SCA17 is caused by a CAG repeat expansion in the TBP gene, inherited in an autosomal dominant pattern.
What are the common symptoms of SCA17?
Symptoms include unsteady gait, tremors, speech difficulties, memory loss, depression, vision problems, and muscle stiffness.
How is SCA17 diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test for the TBP gene.
What is the cost of the TBP gene test at DNA Labs India?
The cost is INR 20000, which includes test and genetic counseling.
Is genetic testing necessary for SCA17?
Genetic testing is recommended for individuals with symptoms or family history to confirm diagnosis and guide management.
What is the turnaround time for test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
Can this test be performed on children?
Yes, the test can be done for all ages, but genetic counseling is advised for minors.
What should I do if my test result is positive?
Consult a neurologist or genetic counselor for further management and family risk assessment.
Is there a cure for SCA17?
Currently, there is no cure for SCA17, but symptoms can be managed with appropriate therapies.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations in the TBP gene, but results should be correlated with clinical findings.
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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