Skip to main content
DNA Labs India

CACNA1A Gene Episodic ataxia type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CACNA1A Gene Episodic ataxia type 2 NGS Genetic Test

Short Name: EA2 NGS Genetic Test

Also known as: EA2 Genetic Test, CACNA1A Mutation Test, Episodic Ataxia Type 2 DNA Sequencing

CACNA1A Gene Episodic ataxia type 2 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 Reports are typically delivered within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the CACNA1A gene that cause Episodic Ataxia Type 2. Genetic confirmation supports a definitive diagnosis, enables differentiation from other hereditary and acquired ataxias, and provides information for reproductive risk assessment.

Test Code
4095
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please bring any previous imaging or clinical notes if available. Genetic counselling is recommended before testing to understand the implications and provide an informed consent.

Method: Peripheral venipuncture or finger-prick blood spot on FTA card

Step 2

Laboratory Analysis

A small volume of blood will be drawn from a vein in your arm, or a finger-prick blood spot may be collected on an FTA card.

Step 3

Report Delivery

If a blood draw was performed, keep the bandage on for a few hours. You can resume normal activities immediately after sample collection.

Timeline: Reports are typically delivered within 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No preparation is required. Genetic counseling is recommended to explain the scope and potential outcomes of the test. A signed consent form will be collected.
2
During the Test:A blood sample will be taken by a trained phlebotomist. Alternatively, a dried blood spot may be collected using an FTA card. The procedure is quick and minimally invasive.
3
After the Test:No special precautions are needed after sample collection. You will receive your report via the chosen communication channel within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the CACNA1A gene that cause Episodic Ataxia Type 2. Genetic confirmation supports a definitive diagnosis, enables differentiation from other hereditary and acquired ataxias, and provides information for reproductive risk assessment.

How to Prepare

  • Confirm your identity and test order
  • Ensure the sample is labelled with your name and date of birth
  • If submitting an FTA card, let it air dry before placing in the sleeve
  • Transport samples at room temperature to the laboratory within 24-48 hours

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic confirmation of EA2 is essential to differentiate from other hereditary ataxias and to guide reproductive and therapeutic decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL whole blood or 1 blood spot on FTA card
ContainerEDTA tube or FTA card
Collection MethodPeripheral venipuncture or finger-prick blood spot on FTA card

Sample Stability

Whole blood (EDTA): stable for 48 hours at 2-8°C
Extracted DNA: stable for 1 year at -20°C
FTA card: stable for months at room temperature
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Incorrectly labelled or unlabelled sample
  • Insufficient sample volume
  • Sample received after more than 72 hours at room temperature
  • FTA card wet or contaminated

Understanding Your Results

The CACNA1A NGS genetic test provides information about the presence of disease-causing variants. The result should be correlated with clinical findings and family history.
📊

Pathogenic variant detected

Confirms a molecular diagnosis of Episodic Ataxia Type 2. Genetic counselling is recommended.

📊

Likely pathogenic variant detected

Highly suggestive of EA2; additional family studies may be needed.

📊

Variant of uncertain significance (VUS) detected

The clinical significance is uncertain; further testing or family segregation analysis may be helpful.

📊

No pathogenic variant detected

Does not exclude EA2; other CACNA1A-related disorders or different genes may be considered.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experience episodes of ataxia, dizziness, or unsteady gait. Also consult after receiving the test report to understand the results and management options.

Limitations

  • ⚠NGS may not detect large genomic rearrangements or copy number variations
  • ⚠Variants in non-coding regions may not be fully covered
  • ⚠Variants of uncertain significance may require further family studies
  • ⚠Results do not predict age of onset or severity
  • ⚠This test is not intended for prenatal screening unless explicitly requested

Risks & Considerations

  • ●Bruising or small painful lump at the puncture site
  • ●Excessive bleeding (rare)
  • ●Infection (very low risk)
  • ●Psychological stress from genetic testing

Interfering Factors

  • ●DNA degradation due to improper sample handling
  • ●Contamination with other genetic material
  • ●Rare variants of uncertain significance (VUS)
  • ●Large deletions or duplications may not be detected by standard NGS
  • ●Methylation or repeat expansion disorders may require special assays

Compare With Similar Tests

TestCACNA1A Gene Episodic ataxia type 2 NGS Genetic Test
ComparisonCACNA1A Gene Episodic ataxia type 2 NGS Genetic Test

Frequently Asked Questions

What is the CACNA1A gene?
The CACNA1A gene provides instructions for making the alpha-1A subunit of a voltage-gated calcium channel (CaV2.1). This channel is important for the normal function of nerve cells.
What is Episodic Ataxia Type 2 (EA2)?
EA2 is a rare inherited neurological disorder characterized by recurrent episodes of ataxia (lack of coordination), vertigo, and nausea. It can be triggered by stress, fatigue, or exercise.
What are the symptoms of EA2?
Common symptoms include sudden episodes of imbalance, slurred speech, dizziness, headache, ringing in the ears, and unsteady gait. Episodes may last from minutes to days.
How is EA2 diagnosed?
Diagnosis is based on clinical evaluation, family history, and confirmed by genetic testing to detect a pathogenic mutation in the CACNA1A gene.
Why is NGS used for this genetic test?
Next-Generation Sequencing (NGS) allows rapid and comprehensive analysis of the CACNA1A gene, including detection of point mutations, small insertions/deletions, and splice site variants.
What sample is required for the test?
The test can be performed on a blood sample, extracted DNA, or a dried blood spot on an FTA card. Home sample collection is available in select cities.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time of the day.
What is the cost of the CACNA1A gene test?
The test costs INR 20,000. The price includes genetic counselling and the detailed NGS report. Free home sample collection is provided for online bookings.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks after the sample reaches the laboratory.
Will the test be covered by insurance?
Genetic tests are generally not covered by standard health insurance in India. You may check with your insurance provider for possible reimbursement in specific cases.
Are there any risks associated with the test?
There are minimal risks such as slight pain or bruising at the blood-draw site. A dried blood spot collection is virtually painless. No significant medical risks are associated.
What happens if a mutation is found?
A pathogenic mutation confirms EA2 diagnosis. This can help guide medication such as acetazolamide, lifestyle adjustments, and provide important information for family members regarding inheritance.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference 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.

LIMS Integration

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.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.