SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test
Short Name: SCA-23 PDYN Gene Mutation Test
Also known as: Spinocerebellar Ataxia Type 23, PDYN Gene Test, SCA-23 Genetic Test
SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test test available at DNA Labs India for ₹7,500. Uses PCR, Sequencing on Whole Blood samples. Results in Sample collected by Tuesday 11 AM; report available by Saturday.. 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
To confirm the presence of PDYN gene mutations associated with Spinocerebellar Ataxia Type 23, aiding in accurate diagnosis, differentiation from other ataxias, and informing management and genetic counseling.
- Test Code
- 1400
- Price
- ₹7,500
- Sample Type
- Whole Blood
- Result Time
- Sample collected by Tuesday 11 AM; report available by Saturday.
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
No fasting required. Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled and available for the collection.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture, typically from the arm, into an EDTA tube.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities. Sample will be transported refrigerated to the lab.
Timeline: Sample collected by Tuesday 11 AM; report available by Saturday.
Patient Instructions
About This Test
Who Should Get This Test
To confirm the presence of PDYN gene mutations associated with Spinocerebellar Ataxia Type 23, aiding in accurate diagnosis, differentiation from other ataxias, and informing management and genetic counseling.
How to Prepare
- Provide 4 mL of whole blood in a lavender top (EDTA) tube
- Ship sample refrigerated; do not freeze
- Ensure all clinical information is accurately documented on Form 20
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SCA-23 is crucial for accurate diagnosis, especially when symptoms mimic other neurological disorders. Early detection aids in management and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper labeling or form
- Hemolyzed, clotted, or insufficient sample volume
- Sample stored or transported incorrectly (e.g., frozen)
Understanding Your Results
Positive for PDYN mutation
Confirms diagnosis of SCA-23. Genetic counseling and further clinical evaluation recommended.
Negative for PDYN mutation
No pathogenic mutation detected. Consider other causes of ataxia or repeat testing if symptoms persist.
Variant of uncertain significance
A genetic variant was found but its role in disease is unclear. Consultation with a geneticist is advised.
Consult a neurologist or geneticist if you experience symptoms like progressive ataxia, dysarthria, or have a family history of SCA-23. After testing, discuss results for management and family planning.
Limitations
- ⚠Test may not detect all possible PDYN gene variants or novel mutations
- ⚠Results require correlation with clinical symptoms and family history
- ⚠Genetic counseling is recommended to interpret results accurately
- ⚠False negatives/positives are possible but minimized with advanced sequencing
Risks & Considerations
- ●Minor bruising or pain at blood draw site
- ●Very rare risk of infection or fainting
- ●Emotional impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination or degradation may affect results
- ●Improper storage or handling of blood sample
- ●Previous blood transfusions within recent months (rare)
Compare With Similar Tests
| Test | SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test | SCA-1 Gene Test | Comprehensive Ataxia Panel |
|---|---|---|---|
| Comparison | SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test |
Frequently Asked Questions
What is SCA-23?
What are the common symptoms of SCA-23?
How is SCA-23 diagnosed?
What does the PDYN gene do?
What is the cost of the SCA-23 genetic test in India?
Is the test painful or risky?
How long does it take to get the results?
What does a positive result mean?
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