ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test
Short Name: ATP2B3 SCA1 NGS Test
Also known as: Spinocerebellar ataxia type 1, SCA1, X-linked spinocerebellar ataxia, ATP2B3-related ataxia
ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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.
🩺 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 diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting pathogenic variants in the ATP2B3 gene, identify carriers of the X-linked mutation, assess the risk of passing the condition to future generations, and guide clinical management and genetic counseling.
- Test Code
- 4562
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Provide clinical history and family pedigree as per pre-test information.
Method: Venipuncture for blood; FTA card for drop blood
Laboratory Analysis
Blood sample collected via venipuncture; alternatively, one drop blood on FTA card. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting pathogenic variants in the ATP2B3 gene, identify carriers of the X-linked mutation, assess the risk of passing the condition to future generations, and guide clinical management and genetic counseling.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile collection equipment
- Transport samples at ambient temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS genetic test is essential for confirming SCA1 diagnosis, guiding treatment plans, and providing family counseling for X-linked inheritance risks."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SCA1; genetic counseling recommended for family planning
No pathogenic variant detected
SCA1 unlikely based on genetic testing; consider other diagnoses or repeat testing if symptoms persist
Variant of uncertain significance
Further testing or family studies may be needed for clarification
Consult a neurologist or genetic counselor if you experience symptoms of SCA1, have a family history of the condition, or receive a positive test result for guidance on management and family planning.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or intronic variants
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not assess for other genetic causes of ataxia
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain, bruising, or infection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Degraded or insufficient DNA sample
- ●Sample contamination during collection or transport
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test | SCA2 NGS Genetic Test | SCA3 NGS Genetic Test | Comprehensive Ataxia Panel | Friedreich's Ataxia Test |
|---|---|---|---|---|---|
| Comparison | ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test | Targets ATXN2 gene for spinocerebellar ataxia type 2; different genetic cause | Targets ATXN3 gene for Machado-Joseph disease; autosomal dominant inheritance | Analyzes multiple genes associated with hereditary ataxias; broader scope | Targets FXN gene; autosomal recessive inheritance, different symptoms |
Frequently Asked Questions
What is the ATP2B3 Gene SCA1 NGS Genetic Test?
Who should consider this test?
What is the cost of the test in India?
How is the sample collected?
Is fasting required before the test?
How long does it take to get results?
What do the results mean?
Can females be affected by SCA1?
Is home sample collection available?
What are the risks of the test?
How accurate is the NGS genetic test?
What should I do after receiving results?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.