Skip to main content
DNA Labs India

Episodic Ataxia Type 1 Hotspot Test

DNA Labs India | ISO 9001:2015 Certified

Episodic Ataxia Type 1 Hotspot Test

Short Name: EA1 Hotspot Test

Also known as: Episodic Ataxia with Myokymia, EA1

Episodic Ataxia Type 1 Hotspot Test test available at DNA Labs India for ₹11,500. Uses PCR, Sequencing on 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. samples. Results in Reports available within 5 business days from sample receipt.. Free home collection in 300+ cities across India.

Molecular Genetic Test🏠 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

To detect specific mutations in the KCNA1 gene for diagnosis of Episodic Ataxia Type 1, guiding clinical management and genetic counseling.

Test Code
519
Price
₹11,500
Sample Type
4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube.
Result Time
Reports available within 5 business days from sample receipt.
Fasting Required
No
Method
PCR, Sequencing
Step 1

Sample Collection

Ensure the Genomics Clinical Information Requisition Form (Form 20) is duly filled. No specific fasting required, but follow general preparation instructions.

Method: Blood draw

Step 2

Laboratory Analysis

A phlebotomist will collect 4 mL of blood from a vein using a lavender top (EDTA) tube.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store the sample as per stability guidelines.

Timeline: Reports available within 5 business days from sample receipt.

Patient Instructions

1
Before the Test:Complete the required requisition form and ensure sample collection instructions are followed.
2
During the Test:Blood sample is analyzed using PCR and sequencing to detect KCNA1 gene mutations.
3
After the Test:Results are reviewed by a geneticist and reported with genetic counseling included.

About This Test

Who Should Get This Test

To detect specific mutations in the KCNA1 gene for diagnosis of Episodic Ataxia Type 1, guiding clinical management and genetic counseling.

How to Prepare

  • Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Collect 4 mL (2 mL min.) whole blood in a lavender top (EDTA) tube.
  • Ship refrigerated. DO NOT FREEZE.
  • Label the sample with patient details and test information.

Doctor's Notes

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

"This test is essential for diagnosing EA1, enabling targeted treatment and genetic counseling for patients and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample Type4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube.
Sample Volume4 mL
ContainerLavender Top (EDTA) tube
Collection MethodBlood draw

Sample Stability

Room Temperature
Refrigerator
Frozen
Sample Rejection Criteria:
  • Sample received without proper requisition form
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Improper labeling or storage

Understanding Your Results

Results indicate whether pathogenic mutations in the KCNA1 gene are detected, which are associated with Episodic Ataxia Type 1.
📊

Positive

Pathogenic variant detected; confirms diagnosis of EA1. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected in hotspot regions. Clinical correlation and further testing may be needed.

📊

Variant of Uncertain Significance

Genetic variant identified but significance unclear. Consult a geneticist for evaluation.

⚠️ When to Consult a Doctor:

If symptoms such as recurrent ataxia, tremors, or dizziness persist, or if test results are positive or equivocal, consult a neurologist or geneticist for further evaluation and management.

Limitations

  • ⚠This test targets hotspot mutations and may not detect all variants in the KCNA1 gene.
  • ⚠Results require clinical correlation for accurate diagnosis.
  • ⚠Does not rule out other genetic or neurological disorders.

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or fainting
  • ●No significant long-term risks from the test itself

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient blood volume
  • ●Improper storage or handling of sample

Compare With Similar Tests

TestEpisodic Ataxia Type 1 Hotspot TestEpisodic Ataxia Type 2 Genetic TestFull KCNA1 Gene Sequencing
ComparisonEpisodic Ataxia Type 1 Hotspot Test

Frequently Asked Questions

What is Episodic Ataxia Type 1?
EA1 is a rare genetic disorder causing episodes of uncoordinated movement, tremors, and dizziness due to KCNA1 gene mutations.
What causes EA1?
EA1 is caused by mutations in the KCNA1 gene, which affects potassium channels in nerve cells.
What are the symptoms of EA1?
Symptoms include brief episodes of ataxia, tremors, dizziness, slurred speech, and double vision, often triggered by stress or exercise.
How is EA1 diagnosed?
Diagnosis involves genetic testing, such as the Episodic Ataxia Type 1 Hotspot Test, to detect KCNA1 gene mutations.
What does the hotspot test involve?
It involves a blood sample analyzed using PCR and sequencing to identify specific mutations in the KCNA1 gene.
What is the cost of the test?
The test costs INR 11,500 at DNA Labs India, including genetic counseling and sample collection.
Is home sample collection available?
Yes, free home collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 5 business days after sample collection.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider for details.
Can the test detect all mutations?
This hotspot test targets common mutations; for comprehensive analysis, full gene sequencing may be recommended.
What should I do if I test positive?
If positive, consult a neurologist or geneticist for management, treatment options, and family counseling.
How accurate is this test?
The test uses advanced genetic technologies with high accuracy, but results should be interpreted in clinical context.
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 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

APO E Genotyping Test

₹38,000
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.