SCA-17 (Spinocerebellar Ataxia): TBP Gene Mutation Test
Short Name: SCA-17 TBP Gene Test
Also known as: Spinocerebellar Ataxia Type 17, SCA-17
SCA-17 (Spinocerebellar Ataxia): TBP Gene Mutation Test test available at DNA Labs India for ₹4,500. Uses PCR, Fragment Analysis on Whole blood samples. Results in 10-12 days. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the SCA-17 TBP gene mutation test is to diagnose Spinocerebellar Ataxia Type 17 by detecting pathogenic expansions in the TBP gene. This test helps confirm clinical symptoms, guide treatment plans, and provide genetic counseling for affected individuals and their families.
- Test Code
- 1406
- Price
- ₹4,500
- Sample Type
- Whole blood
- Result Time
- 10-12 days
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No fasting is required, but stay hydrated and inform the collector of any medications.
Method: Blood draw
Laboratory Analysis
A healthcare professional will collect 4 mL of blood via venipuncture into an EDTA tube. The procedure is quick with minimal discomfort.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample as instructed and await results in 10-12 days.
Timeline: 10-12 days
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SCA-17 TBP gene mutation test is to diagnose Spinocerebellar Ataxia Type 17 by detecting pathogenic expansions in the TBP gene. This test helps confirm clinical symptoms, guide treatment plans, and provide genetic counseling for affected individuals and their families.
How to Prepare
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
- Collect 4 mL whole blood in a lavender top EDTA tube.
- Ship refrigerated; do not freeze.
- Label the tube accurately with patient details.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic testing for SCA-17 is crucial for accurate diagnosis and management. If you experience symptoms like ataxia or coordination issues, consult a neurologist for evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted sample
- Unlabeled or mislabeled tube
- Incorrect collection container
Understanding Your Results
Negative
No pathogenic expansion detected in the TBP gene. Does not rule out other causes of ataxia.
Positive
Pathogenic expansion identified, supporting a diagnosis of SCA-17. Genetic counseling recommended.
Inconclusive
Results unclear; repeat testing or additional genetic analysis may be needed.
Consult a neurologist or genetic specialist if you experience symptoms like ataxia, coordination problems, or have a family history of SCA-17. For result interpretation and next steps, seek professional advice.
Limitations
- ⚠Cannot detect all genetic variants of SCA-17
- ⚠Results should be interpreted in conjunction with clinical evaluation
- ⚠May not identify de novo mutations in all cases
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection
- ●Fainting or dizziness during blood draw
Interfering Factors
- ●Sample contamination
- ●Improper sample collection or handling
- ●Recent blood transfusion
- ●Hemolyzed or insufficient sample
Compare With Similar Tests
| Test | SCA-17 (Spinocerebellar Ataxia): TBP Gene Mutation Test | SCA-1 Gene Test | Ataxia Gene Panel | Friedreich's Ataxia Test |
|---|---|---|---|---|
| Comparison | SCA-17 (Spinocerebellar Ataxia): TBP Gene Mutation Test |
Frequently Asked Questions
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