SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test
Short Name: SCA12 PPP2R2B Mutation
Also known as: Spinocerebellar Ataxia Type 12, PPP2R2B Gene Mutation Test, SCA12 Genetic Test
SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test test available at DNA Labs India for ₹4,000. Uses PCR, Fragment Analysis on Whole Blood samples. Results in Reports are generally available within 10-12 days after the sample reaches the laboratory.. 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
The purpose of this test is to detect a pathogenic CAG repeat expansion in the PPP2R2B gene. This result is used to confirm a clinical diagnosis of Spinocerebellar Ataxia Type 12 (SCA12) in symptomatic individuals and to provide a genetic explanation for ataxia in affected families.
- Test Code
- 3633
- ICD Code
- G11.2
- Price
- ₹4,000
- Sample Type
- Whole Blood
- Result Time
- Reports are generally available within 10-12 days after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- PCR, Fragment Analysis
Sample Collection
No special preparation is required. However, the duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Method: Peripheral venipuncture
Laboratory Analysis
A trained phlebotomist will collect 4 mL (2 mL minimum) of venous blood into a lavender top EDTA tube.
Report Delivery
The sample should be transported refrigerated. Do not freeze the sample. The patient can resume normal activities immediately.
Timeline: Reports are generally available within 10-12 days after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect a pathogenic CAG repeat expansion in the PPP2R2B gene. This result is used to confirm a clinical diagnosis of Spinocerebellar Ataxia Type 12 (SCA12) in symptomatic individuals and to provide a genetic explanation for ataxia in affected families.
How to Prepare
- No fasting required
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
- Please inform the laboratory or collection centre if you have had a bone marrow transplant within the past year
- Sample must be shipped refrigerated and must not be frozen
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In clinical practice, SCA12 should be considered when a patient has adult-onset tremor followed by progressive ataxia, especially with an autosomal dominant family history. Genetic confirmation is essential for accurate counselling and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample received frozen
- Incorrect or missing patient identification
- Duly filled Genomics Clinical Information Requisition Form (Form 20) not provided
Understanding Your Results
Negative
No pathogenic CAG repeat expansion detected in the PPP2R2B gene. SCA12 is unlikely based on this test.
Positive
A pathogenic CAG repeat expansion is present in the PPP2R2B gene. This is consistent with a diagnosis of SCA12.
Equivocal
The result is indeterminate. Additional testing or clinical correlation may be required.
If you or a family member experience symptoms such as tremors, unsteady gait, balance problems, slurred speech, or memory decline, it is advisable to consult a neurologist for clinical evaluation and appropriate genetic testing.
Limitations
- ⚠This test only detects pathological CAG repeat expansion in the PPP2R2B gene.
- ⚠A negative result does not exclude other inherited or acquired causes of ataxia.
- ⚠Genetic counselling is recommended for all patients undergoing predictive or diagnostic genetic testing.
Risks & Considerations
- ●Minor pain or bruising at the needle site
- ●Lightheadedness during or after blood collection
- ●Rare risk of local infection or haematoma
Interfering Factors
- ●Recent allogeneic bone marrow transplantation may lead to donor-derived DNA results.
- ●Recent blood transfusion may affect DNA analysis in rare cases.
- ●Poor quality DNA due to sample hemolysis or improper storage.
Compare With Similar Tests
| Test | SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test | |||
|---|---|---|---|---|
| Comparison | SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test |
Frequently Asked Questions
What is the cost of the SCA-12 PPP2R2B gene mutation test at DNA Labs India?
What is SCA-12?
What sample is required for the PPP2R2B gene mutation test?
Do I need to be fasting for this test?
How long does the SCA-12 genetic test report take?
Is home sample collection available for this test?
Who should take this test?
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Can this test predict the severity of the disease?
Is the Genomics Clinical Information Requisition Form mandatory?
Is home sample collection available across India?
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