Skip to main content
DNA Labs India

NOL3 Gene Myoclonus, familial cortical NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NOL3 Gene Myoclonus, familial cortical NGS Genetic Test

Short Name: NOL3 Myoclonus NGS Test

Also known as: NOL3 Gene Test for Myoclonus, Familial Cortical Myoclonus Genetic Test, NOL3 Mutation Analysis

NOL3 Gene Myoclonus, familial cortical NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the NOL3 Gene Myoclonus NGS Genetic Test is to detect mutations in the NOL3 gene that cause familial cortical myoclonus. This enables accurate diagnosis, informs personalized treatment plans, supports genetic counseling for families, and helps in understanding the genetic basis of the condition to guide long-term management.

Test Code
1743
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for Confirmation
Step 1

Sample Collection

Provide detailed clinical history of the patient, including symptoms, family history, and any prior diagnoses. A genetic counseling session is recommended to draw a pedigree chart of affected family members.

Method: Venipuncture or fingerstick

Step 2

Laboratory Analysis

Sample collection involves drawing blood via venipuncture or using a fingerstick for a blood drop on an FTA card. The process is minimally invasive and performed by trained professionals.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Store the sample as per instructions and transport to the lab promptly. No specific post-collection care is required.

Timeline: Results are typically available within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:Gather clinical and family history. Undergo genetic counseling if recommended. No fasting is required, but stay hydrated.
2
During the Test:A blood sample is collected via venipuncture or fingerstick. The procedure takes about 10-15 minutes and is performed at home or a clinic.
3
After the Test:Resume normal activities. The sample is analyzed in the lab, and results are delivered in 3-4 weeks. Follow up with your doctor for result interpretation.

About This Test

Who Should Get This Test

The purpose of the NOL3 Gene Myoclonus NGS Genetic Test is to detect mutations in the NOL3 gene that cause familial cortical myoclonus. This enables accurate diagnosis, informs personalized treatment plans, supports genetic counseling for families, and helps in understanding the genetic basis of the condition to guide long-term management.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Follow standard phlebotomy procedures
  • Use provided containers for sample stability
  • Document clinical history and consent forms

Doctor's Notes

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

"Genetic testing for NOL3 mutations is essential for accurate diagnosis and management of familial cortical myoclonus, enabling personalized treatment and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or fingerstick

Sample Stability

Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed samples
  • Improper labeling or mismatched documentation
  • Sample stored beyond stability period

Understanding Your Results

Interpretation of NOL3 Gene Myoclonus NGS Genetic Test results should be done by a qualified geneticist or neurologist. Results indicate the presence or absence of pathogenic variants in the NOL3 gene, which guide diagnosis and management.
Positive result: Pathogenic variant detected in NOL3 gene, confirming genetic cause of myoclonus. This supports diagnosis and informs treatment options.
Negative result: No pathogenic variants detected. Consider other genetic or non-genetic causes, and further testing may be needed.
Variant of uncertain significance (VUS): Genetic change with unknown clinical impact. Requires clinical correlation and possible family studies.
Inconclusive result: Insufficient data for interpretation. Repeat testing or additional genetic tests may be recommended.
⚠️ When to Consult a Doctor:

Consult a healthcare professional if you experience symptoms of myoclonus, have a family history of the condition, or receive positive or uncertain test results. Genetic counseling is advised for all outcomes.

Limitations

  • May not detect all possible mutations in the NOL3 gene
  • Results should be interpreted in conjunction with clinical findings
  • Genetic variants of uncertain significance may be identified
  • Does not rule out other genetic or non-genetic causes of myoclonus

Risks & Considerations

  • Minimal risks from blood draw, such as slight pain, bruising, or infection at the site
  • No significant risks associated with genetic testing itself

Interfering Factors

  • Sample contamination
  • Improper sample handling or storage
  • Recent blood transfusions may affect DNA quality
  • Use of certain medications that impact DNA integrity

Compare With Similar Tests

TestNOL3 Gene Myoclonus, familial cortical NGS Genetic TestSingle-Gene Sanger SequencingChromosomal MicroarrayWhole Exome SequencingClinical Neurological Exam
ComparisonNOL3 Gene Myoclonus, familial cortical NGS Genetic Test

Frequently Asked Questions

What is the NOL3 gene?
The NOL3 gene, or nucleolar protein 3 gene, is located on chromosome 16 and regulates cell death. Mutations in this gene are associated with myoclonus, cardiomyopathy, and other conditions.
What are the symptoms of NOL3 gene myoclonus?
Symptoms include sudden muscle twitches or jerks, tremors, coordination difficulties, speech issues, swallowing problems, and muscle stiffness or rigidity.
How is the NOL3 Gene Myoclonus Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the NOL3 gene from a blood or DNA sample, detecting mutations that cause familial cortical myoclonus.
What is the cost of the test?
The cost is INR 20,000, which includes sample collection, analysis, and a clinical report with raw data files.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks from the time the sample is received by the lab.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the NOL3 gene, confirming a genetic cause for myoclonus. This guides treatment and genetic counseling.
Can the test be used for genetic counseling?
Yes, the test provides genetic information that is essential for counseling families about risks, inheritance patterns, and management options.
Are there any risks associated with the test?
Risks are minimal and related to blood draw, such as slight pain or bruising. Genetic testing itself has no physical risks.
How should I prepare for the test?
No specific preparation is needed. Provide your clinical history and undergo genetic counseling if recommended.
What if I have a family history of myoclonus?
A family history increases the likelihood of genetic causes. This test can help identify NOL3 mutations and guide screening for at-risk family members.
Where can I get this test done?
The test is available at DNA Labs India with home collection in cities like Mumbai, Delhi, Bangalore, and others. Book online or contact us for details.
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

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.