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NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic Test

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NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic Test

Short Name: Lafora Epilepsy NGS Test

Also known as: Lafora Disease Genetic Test, EPM2B Gene Test, Progressive Myoclonus Epilepsy Genetic Test

NHLRC1 Gene Myoclonic epilepsy of Lafora 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAdolescents and Adults🏠 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 primary purpose of this test is to confirm a clinical diagnosis of Myoclonic Epilepsy of Lafora by identifying disease-causing mutations in the NHLRC1 gene. It aids in differential diagnosis of epilepsy syndromes, guides prognosis, and supports genetic counseling for affected families. Testing is also valuable for carrier screening in at-risk relatives and for research purposes to understand disease mechanisms.

Test Code
1746
ICD Code
G40.3
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended to discuss implications of testing. No special preparation is needed, but a clinical history and family pedigree should be provided.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A small blood sample (5 ml) is drawn via venipuncture or a finger-prick for FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

Sample is labeled, stored at ambient temperature, and transported to the lab. Results are delivered in 3-4 weeks via the chosen method.

Timeline: 3 to 4 Weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule genetic counseling. Provide detailed clinical history and family pedigree. Ensure informed consent is obtained.
2
During the Test:Blood sample collection is performed by a trained phlebotomist. The sample is processed for DNA extraction and NGS analysis.
3
After the Test:Results are analyzed and reviewed by genetic experts. A comprehensive report is generated and delivered to the patient or physician.

About This Test

Who Should Get This Test

The primary purpose of this test is to confirm a clinical diagnosis of Myoclonic Epilepsy of Lafora by identifying disease-causing mutations in the NHLRC1 gene. It aids in differential diagnosis of epilepsy syndromes, guides prognosis, and supports genetic counseling for affected families. Testing is also valuable for carrier screening in at-risk relatives and for research purposes to understand disease mechanisms.

How to Prepare

  • Ensure proper patient identification and labeling.
  • Use sterile collection equipment to avoid contamination.
  • For FTA cards, allow blood to dry completely before packaging.
  • Maintain sample integrity during transport.

Doctor's Notes

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

"Early genetic diagnosis of Lafora disease is crucial for family planning, supportive care, and advancing research. This test empowers patients with actionable information."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube: Stable for 48 hours at 2-8°C
Extracted DNA: Stable for years at -20°C
FTA card sample: Stable at room temperature for weeks
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Incorrectly labeled or unlabeled samples
  • Contaminated FTA cards

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the NHLRC1 gene. Positive results confirm the genetic basis of Lafora disease, while negative results may require further clinical evaluation.
Positive: Detection of known pathogenic variants confirms diagnosis. Genetic counseling is essential.
Negative: No pathogenic variants found. Consider other genetic causes or clinical reassessment.
Variant of Uncertain Significance (VUS): Further family studies or functional assays may be needed. Clinical correlation is advised.
Carrier status: Heterozygous carriers are usually unaffected but have a 25% risk of having an affected child if both parents are carriers.
⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist immediately after receiving results, especially if positive, to discuss management options, supportive care, and family planning.

Limitations

  • ⚠May not detect large genomic rearrangements or deep intronic variants
  • ⚠Variants of uncertain significance (VUS) may be identified
  • ⚠Does not rule out mutations in other epilepsy-related genes
  • ⚠Results require clinical correlation for definitive diagnosis

Risks & Considerations

  • ●Minimal physical risk from blood draw (bruising, infection)
  • ●Potential psychological impact from genetic results
  • ●Risk of receiving variants of uncertain significance leading to anxiety

Interfering Factors

  • ●Degraded or insufficient DNA sample
  • ●Contamination during sample collection
  • ●Recent blood transfusion affecting DNA analysis
  • ●Technical errors in sequencing library preparation

Compare With Similar Tests

TestNHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic TestEPM2A Gene TestEpilepsy Gene PanelWhole Exome SequencingBiochemical Assay for Lafora Bodies
ComparisonNHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic Test

Frequently Asked Questions

What is Myoclonic Epilepsy of Lafora?
It is a rare, progressive genetic disorder causing seizures, muscle jerks, and cognitive decline, typically beginning in adolescence.
What causes this disease?
It is caused by mutations in the NHLRC1 or EPM2A genes, inherited in an autosomal recessive pattern.
How is the NHLRC1 gene involved?
The NHLRC1 gene provides instructions for making a protein called malin, which helps regulate glycogen metabolism. Mutations lead to abnormal glycogen accumulation in brain cells.
What are the symptoms of Lafora disease?
Symptoms include myoclonic seizures, tonic-clonic seizures, visual hallucinations, ataxia, and rapid cognitive decline.
How is this genetic test performed?
A blood or DNA sample is analyzed using next-generation sequencing (NGS) to detect mutations in the NHLRC1 gene with high accuracy.
What does a positive test result mean?
A positive result confirms a genetic diagnosis of Lafora disease, aiding in management and family counseling.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling sessions to explain results and implications.
Can this test be done at home?
Yes, we offer free home sample collection across many cities in India for added convenience.
What is the cost of the test?
The test costs INR 20000, with free home collection included.
Is the test covered by insurance?
Coverage varies; it is not typically covered by standard insurance plans in India, but check with your provider.
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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