SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test
Short Name: SCA-5 SPTBN2 Gene Test
Also known as: Spinocerebellar Ataxia Type 5 Test, SPTBN2 Gene Test, SCA5 Genetic Test, Beta-III Spectrin Gene Mutation Test, SPTBN2 Exon 12 Mutation Analysis
SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test test available at DNA Labs India for ₹7,500. Uses PCR (Polymerase Chain Reaction), DNA Sequencing on Whole Blood samples. Results in Sample should reach the laboratory by Tuesday 11:00 AM. Reports are typically available by Saturday of the same week, approximately 5–6 working days.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
This test is performed to detect mutations in the SPTBN2 gene (exon 12 hotspot locus) that cause Spinocerebellar Ataxia Type 5. It helps confirm a clinical diagnosis of SCA-5, differentiate it from other types of spinocerebellar ataxia, facilitate genetic counseling for affected families, and support informed clinical management decisions.
- Test Code
- 1413
- ICD Code
- G11.1
- Price
- ₹7,500
- Sample Type
- Whole Blood
- Result Time
- Sample should reach the laboratory by Tuesday 11:00 AM. Reports are typically available by Saturday of the same week, approximately 5–6 working days.
- Fasting Required
- No
- Method
- PCR (Polymerase Chain Reaction), DNA Sequencing
Sample Collection
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. No fasting is required. Inform the collecting technician about any relevant medical or family history.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood draw will be performed. Approximately 4 mL of whole blood will be collected into a Lavender top (EDTA) tube.
Report Delivery
The blood sample is shipped refrigerated. DO NOT FREEZE. The sample is stable at room temperature for 6 hours and refrigerated for up to 1 week.
Timeline: Sample should reach the laboratory by Tuesday 11:00 AM. Reports are typically available by Saturday of the same week, approximately 5–6 working days.
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to detect mutations in the SPTBN2 gene (exon 12 hotspot locus) that cause Spinocerebellar Ataxia Type 5. It helps confirm a clinical diagnosis of SCA-5, differentiate it from other types of spinocerebellar ataxia, facilitate genetic counseling for affected families, and support informed clinical management decisions.
How to Prepare
- Collect 4 mL (2 mL minimum) whole blood in 1 Lavender top (EDTA) tube
- Ship the sample refrigerated. DO NOT FREEZE
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Sample must reach the lab by Tuesday 11:00 AM for report delivery by Saturday
- Label the sample correctly with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Spinocerebellar ataxia type 5 is an autosomal dominant disorder caused by mutations in the SPTBN2 gene. Genetic confirmation through molecular testing is essential for establishing a definitive diagnosis, differentiating SCA-5 from other hereditary ataxias, and providing accurate genetic counseling to patients and their families. Early identification of the SPTBN2 mutation allows for proactive management and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen blood samples
- Sample volume less than 2 mL
- Missing Genomics Clinical Information Requisition Form (Form 20)
- Severely hemolyzed or contaminated samples
- Sample received after the Tuesday 11:00 AM cut-off for the current batch cycle
Understanding Your Results
Mutation Detected (Positive)
A pathogenic variant in the SPTBN2 gene has been identified. This is consistent with a diagnosis of Spinocerebellar Ataxia Type 5 (SCA-5). Clinical correlation is recommended. Genetic counseling should be offered to the patient and at-risk family members.
No Mutation Detected (Negative)
No pathogenic variant was identified in the SPTBN2 gene exon 12 hotspot region. This result does not completely exclude SCA-5 if mutations exist outside the tested locus, nor does it rule out other forms of spinocerebellar ataxia. Clinical correlation and further evaluation may be warranted.
Variant of Uncertain Significance (VUS)
A genetic variant was detected but its clinical significance is currently unknown. Follow-up testing, family studies, and clinical correlation are recommended. Periodic re-evaluation may be needed as new data become available.
Consult a neurologist or clinical geneticist if you experience progressive balance and coordination problems, unexplained tremors, difficulty speaking or swallowing, or if there is a known family history of spinocerebellar ataxia. Early diagnosis and genetic counseling can help manage symptoms and guide family planning.
Limitations
- ⚠This test specifically targets the SPTBN2 gene exon 12 hotspot locus and may not detect mutations in other regions of the gene
- ⚠A negative result does not completely rule out other forms of spinocerebellar ataxia
- ⚠Results should always be interpreted in conjunction with clinical findings and family history
- ⚠Genetic counseling is recommended before and after testing
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of slight swelling or infection at the puncture site
- ●Emotional impact of genetic test results — genetic counseling is recommended
Interfering Factors
- ●Degraded or hemolyzed blood samples may affect DNA extraction quality
- ●Sample stored frozen prior to shipment (frozen samples are not accepted)
- ●Insufficient sample volume (less than 2 mL)
- ●Missing or incomplete Genomics Clinical Information Requisition Form (Form 20)
Compare With Similar Tests
| Test | SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test | SCA-1 (ATXN1 Gene Mutation Test) | SCA-2 (ATXN2 Gene Mutation Test) | SCA-3 (ATXN3 Gene Mutation Test) | SCA-6 (CACNA1A Gene Mutation Test) |
|---|---|---|---|---|---|
| Comparison | SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test |
Frequently Asked Questions
What is the SCA-5 SPTBN2 Gene Mutation Test?
What is SCA-5 and what causes it?
What are the symptoms of SCA-5?
What sample is required for the SCA-5 genetic test?
Is fasting required for the SPTBN2 Gene Mutation Test?
What is the cost of the SCA-5 SPTBN2 Gene Mutation Test in India?
How long does it take to get the SCA-5 test results?
What method is used for the SCA-5 genetic test?
Is home sample collection available for the SCA-5 test?
What does the SPTBN2 gene do?
Can SCA-5 be cured or treated?
Who should consider getting tested for SCA-5?
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