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EPM2A Gene Myoclonic epilepsy of Lafora NGS Genetic Test

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EPM2A Gene Myoclonic epilepsy of Lafora NGS Genetic Test

Short Name: Lafora Disease NGS Test

Also known as: Lafora Disease, Myoclonic Epilepsy of Lafora

EPM2A Gene Myoclonic epilepsy of Lafora NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) Technology 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.

Next-Generation Sequencing (NGS) Genetic TestAdolescents and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic Test is to detect mutations in the EPM2A gene, confirming a diagnosis of Lafora disease. This test aids in differentiating it from other neurological disorders, informs treatment strategies, and facilitates genetic counseling for family planning and risk assessment.

Test Code
1740
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) Technology
Step 1

Sample Collection

A detailed clinical history of the patient must be provided, and a genetic counseling session is recommended to draw a pedigree chart of family members affected with Lafora disease or similar conditions. No fasting is required.

Method: Venipuncture

Step 2

Laboratory Analysis

Sample collection involves a standard venipuncture procedure to draw blood or use of an FTA card for a drop of blood. The process is quick and minimally invasive.

Step 3

Report Delivery

The sample is processed in the laboratory for DNA extraction and NGS sequencing. Patients will receive reports within 3 to 4 weeks via online portal, email, or WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Prior to testing, a clinical history review and genetic counseling session are conducted to assess the need for the test and discuss implications.
2
During the Test:The test involves a simple blood draw or use of an FTA card, with no special preparation required.
3
After the Test:After sample collection, it is sent to the lab for analysis. Results are typically available in 3 to 4 weeks, and follow-up genetic counseling is recommended.

About This Test

Who Should Get This Test

The purpose of the EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic Test is to detect mutations in the EPM2A gene, confirming a diagnosis of Lafora disease. This test aids in differentiating it from other neurological disorders, informs treatment strategies, and facilitates genetic counseling for family planning and risk assessment.

How to Prepare

  • Provide complete clinical history and family medical history
  • Attend a genetic counseling session if advised
  • Ensure proper identification and labeling of the sample

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for EPM2A gene mutations is crucial for accurate diagnosis of Lafora disease, enabling timely management and family counseling to improve patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples are stable for up to 7 days at ambient temperature
FTA cards with blood drops can be stored at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Incorrectly labeled or insufficient sample volume
  • Contaminated samples

Understanding Your Results

Results from the EPM2A Gene NGS Genetic Test are interpreted based on the presence or absence of mutations in the EPM2A gene. A geneticist or healthcare provider will explain the findings in the context of the patient's clinical presentation and family history.
Positive result: Indicates pathogenic mutations in the EPM2A gene, confirming a diagnosis of Lafora disease.
Negative result: No mutations detected in the EPM2A gene, but does not rule out Lafora disease if clinical suspicion remains high; further testing may be needed.
Variant of uncertain significance (VUS): A genetic variant is detected, but its association with the disease is unclear; clinical correlation and family studies are recommended.
⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms such as myoclonus, seizures, or cognitive decline are present, especially in adolescence, or if there is a family history of Lafora disease. Early consultation is key for accurate diagnosis and management.

Limitations

  • ⚠May not detect all possible genetic variants or mutations in non-coding regions
  • ⚠Results require interpretation by a genetic specialist and correlation with clinical findings
  • ⚠Cannot assess disease severity or prognosis solely based on genetic results

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Very rare risk of infection or fainting during venipuncture

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Sample contamination during collection or processing
  • ●Recent blood transfusions (if testing blood)

Frequently Asked Questions

What is the EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic Test?
This test uses Next-Generation Sequencing (NGS) to detect mutations in the EPM2A gene, which cause Lafora disease, a rare form of progressive myoclonic epilepsy.
Who should consider this genetic test?
Individuals experiencing symptoms like seizures, myoclonus, or cognitive decline in adolescence, or those with a family history of Lafora disease, should consider testing.
What is the cost of the test in India?
The cost of the EPM2A Gene NGS Genetic Test at DNA Labs India is INR 20000, with free home sample collection available across India.
What samples are required for the test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What does a positive test result mean?
A positive result confirms mutations in the EPM2A gene, indicating a diagnosis of Lafora disease, which helps guide treatment and genetic counseling.
Can this test be done for children?
Yes, the test can be performed at any age, but it is typically recommended for individuals showing symptoms, often in adolescence.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What is the difference between this test and other epilepsy tests?
This test specifically targets the EPM2A gene for Lafora disease, while other tests may cover a broader range of genes associated with different epilepsy syndromes.
How accurate is the NGS genetic test?
NGS technology provides high accuracy in detecting mutations, but results should be interpreted by a genetic specialist in the context of clinical findings.
Do I need genetic counseling before or after the test?
Genetic counseling is recommended before testing to discuss implications and after receiving results to understand the diagnosis and family planning options.
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.

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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.

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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.

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