Episodic Ataxia Type 2 Hotspot Test
Short Name: EA2 Hotspot Test
Also known as: CACNA1A Gene Mutation Test, Episodic Ataxia Type 2 Genetic Test, EA2 Genetic Test
Episodic Ataxia Type 2 Hotspot Test test available at DNA Labs India for ₹11,500. Uses PCR, Sequencing on Whole blood samples. Results in 10-12 working days from sample receipt. 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 the Episodic Ataxia Type 2 Hotspot Test is to detect mutations in the CACNA1A gene associated with Episodic Ataxia Type 2. This test confirms diagnosis, aids in differential diagnosis from other ataxias or neurological disorders, supports genetic counseling for families, and guides treatment planning by identifying the specific genetic cause.
- Test Code
- 521
- Price
- ₹11,500
- Sample Type
- Whole blood
- Result Time
- 10-12 working days from sample receipt
- Fasting Required
- No
- Method
- PCR, Sequencing
Sample Collection
Ensure the patient has a duly filled Genomics Clinical Information Requisition Form (Form 20). No specific fasting required, but avoid heavy meals immediately before collection.
Method: Venipuncture
Laboratory Analysis
Collect 4 mL whole blood via venipuncture into a Lavender Top (EDTA) tube. Label the tube correctly with patient details.
Report Delivery
Ship the sample refrigerated (DO NOT FREEZE). Process the sample within 6 hours at room temperature or within 1 week if refrigerated.
Timeline: 10-12 working days from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Episodic Ataxia Type 2 Hotspot Test is to detect mutations in the CACNA1A gene associated with Episodic Ataxia Type 2. This test confirms diagnosis, aids in differential diagnosis from other ataxias or neurological disorders, supports genetic counseling for families, and guides treatment planning by identifying the specific genetic cause.
How to Prepare
- Complete Form 20 with all clinical details.
- Use a Lavender Top (EDTA) tube for blood collection.
- Mix the sample gently after collection to prevent clotting.
- Ship refrigerated; do not freeze.
- Store at room temperature for up to 6 hours or refrigerate for up to 1 week.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Episodic Ataxia Type 2 can guide personalized management, reduce diagnostic delays, and inform family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample without Form 20 or incomplete documentation
- Insufficient sample volume (<2 mL)
- Hemolyzed or clotted sample
- Sample stored improperly (e.g., frozen without instruction)
Understanding Your Results
Mutation Detected
Confirms diagnosis of Episodic Ataxia Type 2. Refer for genetic counseling and personalized management.
No Mutation Detected
No mutation found in the hotspot region. Consider other genetic tests or clinical re-evaluation if symptoms persist.
Variant of Uncertain Significance
A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be recommended.
Consult a neurologist or genetic specialist immediately upon receiving a positive result or if symptoms persist despite a negative result. Genetic counseling is advised for family planning implications.
Limitations
- ⚠This test targets hotspot mutations and may not detect all variants in the CACNA1A gene.
- ⚠Results should be interpreted in conjunction with clinical history and other diagnostic tests.
- ⚠Carrier status for autosomal dominant condition may not be fully elucidated without family testing.
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or hematoma
- ●No known risks from the genetic analysis itself
Interfering Factors
- ●Contaminated or improperly stored blood sample
- ●Recent blood transfusion (may affect DNA purity)
- ●Hemolyzed sample
Frequently Asked Questions
What is Episodic Ataxia Type 2 (EA2)?
What causes Episodic Ataxia Type 2?
What are the common symptoms of EA2?
How is EA2 diagnosed?
What does the Episodic Ataxia Type 2 Hotspot Test involve?
What is the cost of this test in India?
Is home sample collection available?
How long does it take to get results?
What should I do if my test is positive?
Is the test covered by insurance?
Who should consider this test?
Are there any risks associated with the test?
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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.
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✓ 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.
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