Skip to main content
DNA Labs India

LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test

Short Name: LMNA EDMD2 NGS Test

Also known as: LMNA gene sequencing test, EDMD2 genetic test, LMNA-related muscular dystrophy NGS test, Emery-Dreifuss muscular dystrophy type 2 DNA test

LMNA Gene Emery-Dreifuss muscular dystrophy 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 The final clinical report is usually provided within 3 to 4 weeks after the sample reaches the laboratory. The report includes raw data, FASTQ and VCF files as provided by DNA Labs India.. Free home collection in 300+ cities across India.

NGS 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 identify pathogenic or likely pathogenic variants in the LMNA gene in individuals with clinical features or family history of Emery-Dreifuss muscular dystrophy type 2, allowing molecular confirmation, risk stratification, prognostic counselling and early cardiac surveillance.

Test Code
4051
ICD Code
G71.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The final clinical report is usually provided within 3 to 4 weeks after the sample reaches the laboratory. The report includes raw data, FASTQ and VCF files as provided by DNA Labs India.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry the test requisition form, clinical summary, family history details and any prior muscle biopsy or cardiac reports. A genetic counselling session is part of the testing process. If you are on anticoagulant therapy, inform the phlebotomist before the blood draw.

Method: Blood draw (venipuncture) or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood from a vein in your arm, or a finger-prick blood spot on an FTA card if selected. The procedure is quick and takes less than 10 minutes.

Step 3

Report Delivery

You can resume normal activities immediately after sample collection. The sample will be transported to the molecular genetics laboratory for DNA extraction, library preparation, NGS sequencing and variant interpretation.

Timeline: The final clinical report is usually provided within 3 to 4 weeks after the sample reaches the laboratory. The report includes raw data, FASTQ and VCF files as provided by DNA Labs India.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counselling session may be scheduled to draw a family pedigree and discuss the benefits, limitations and implications of the test.
2
During the Test:The sample is collected as blood in an EDTA tube or as a dried blood spot on an FTA card. The collection takes only a few minutes.
3
After the Test:No special precautions are needed. The sample goes to the laboratory for DNA extraction, NGS library preparation, sequencing and bioinformatics analysis. The clinical report is issued in 3-4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic or likely pathogenic variants in the LMNA gene in individuals with clinical features or family history of Emery-Dreifuss muscular dystrophy type 2, allowing molecular confirmation, risk stratification, prognostic counselling and early cardiac surveillance.

How to Prepare

  • Wear clothing with sleeves that can be rolled up to expose the arm.
  • Hydrate normally; fasting is not required.
  • Bring a valid photo ID and the completed test requisition form.
  • If using an FTA card, clean the fingertip with alcohol and allow the blood spot to air dry without smearing.
  • Ensure the sample is correctly labelled with the patient's name, date and time of collection.

Doctor's Notes

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

"Once a pathogenic LMNA variant is confirmed, patients should be referred to a cardiologist for baseline ECG and echocardiography, and at-risk family members should be offered targeted genetic testing."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL whole blood or 1 blood spot on FTA card
ContainerEDTA vacutainer or FTA blood collection card
Collection MethodBlood draw (venipuncture) or FTA card blood spot

Sample Stability

EDTA whole blood: transport to laboratory within 24-48 hours; do not freeze whole blood.
FTA card blood spot: stable at room temperature and can be transported by courier.
Extracted DNA: store at -20°C for long-term stability.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient blood volume or empty FTA card
  • Unlabelled or mislabelled specimen
  • Leaking or damaged sample tube
  • Expired or contaminated FTA card

Understanding Your Results

The interpretation should be performed by a qualified clinical geneticist or molecular pathologist. Results are reported using standard nomenclature and ACMG-AMP variant classification.
Positive result: A pathogenic or likely pathogenic variant in the LMNA gene confirms the molecular diagnosis of Emery-Dreifuss muscular dystrophy type 2 in the appropriate clinical context.
Negative result: No pathogenic or likely pathogenic variant was detected in the LMNA gene. This does not rule out other genetic causes of the patient's symptoms.
Variant of uncertain significance (VUS): The clinical effect of the variant is unknown. Additional family studies, segregation analysis and functional evidence may be needed.
Carrier status: In an autosomal dominant disorder such as EDMD2, the presence of a heterozygous pathogenic variant may indicate an affected individual or an at-risk family member depending on clinical presentation.
⚠️ When to Consult a Doctor:

You should consult a clinical geneticist, neurologist or cardiologist if you have symptoms such as progressive muscle weakness, joint contractures, palpitations, unexplained fainting, or a family history of Emery-Dreifuss muscular dystrophy or early cardiac death.

Limitations

  • ⚠This NGS test targets the LMNA gene coding regions and adjacent splice sites; it does not analyse deep intronic variants, large structural rearrangements or regulatory elements unless explicitly validated.
  • ⚠A negative result does not exclude EDMD2 caused by variants in other genes such as EMD, FHL1, SUN1 or SUN2.
  • ⚠Variants of uncertain significance may require family segregation studies, functional assays or further genomic testing.
  • ⚠This test is not intended for mitochondrial DNA analysis.
  • ⚠Molecular results should always be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●Bruising at the blood collection site
  • ●Rare bleeding or haematoma
  • ●Lightheadedness or fainting during blood draw
  • ●Very low risk of infection at the puncture site

Interfering Factors

  • ●Insufficient or degraded DNA sample
  • ●Contamination of the sample during collection or processing
  • ●Recent allogeneic bone marrow or stem cell transplant causing mixed DNA profile
  • ●Uninformative coverage in GC-rich or repetitive regions of the LMNA gene

Compare With Similar Tests

TestLMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test
ComparisonLMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test

Frequently Asked Questions

What is the LMNA gene Emery-Dreifuss muscular dystrophy type 2 NGS genetic test?
This is a targeted next-generation sequencing test that analyzes the LMNA gene for disease-causing variants associated with EDMD2. It helps confirm the clinical diagnosis and guides management. The cost at DNA Labs India is Rs 20000.
What is the cost of this test?
The test costs INR 20000 (Rs 20,000). DNA Labs India offers free home sample collection for online bookings, and reports are available in 3 to 4 weeks.
What sample is needed for the LMNA gene NGS test?
The sample can be whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. This makes sample collection convenient and suitable for home collection.
Do I need to fast before this genetic test?
No. Fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How is Emery-Dreifuss muscular dystrophy type 2 diagnosed?
EDMD2 is diagnosed through clinical examination, muscle MRI or biopsy, cardiac evaluation, and genetic testing. Identification of a pathogenic LMNA variant by NGS confirms the molecular diagnosis.
What are the common symptoms of Emery-Dreifuss muscular dystrophy type 2?
Common symptoms include muscle weakness and wasting in the shoulders, upper arms and lower legs; joint contractures of the elbows, ankles and neck; and heart problems such as arrhythmias and cardiomyopathy.
Who should take this test?
This test is recommended for individuals with clinical features of EDMD2, those with a family history of LMNA-related muscular dystrophy or cardiomyopathy, and at-risk family members of a confirmed LMNA variant carrier.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic variant was detected in the LMNA gene. It does not exclude EDMD2 caused by variants in other genes, deep intronic variants, or large structural rearrangements not detected by this NGS test.
What is a variant of uncertain significance (VUS)?
A VUS is a genetic change whose effect on health is unclear. The laboratory reports VUS and recommends additional family segregation studies or further testing to determine its clinical relevance.
How long will the reports take?
Reports are typically issued in 3 to 4 weeks after the sample reaches the laboratory. The time depends on sequencing, bioinformatics analysis and clinical variant interpretation.
Why are raw data, FASTQ and VCF files important?
Raw data, FASTQ and VCF files allow independent reanalysis by another clinician or bioinformatician, as genetic variant interpretation can evolve over time. DNA Labs India provides these files along with the clinical report.
Is this genetic test covered by insurance?
Coverage depends on your insurance policy and the clinical indication. Public schemes such as PMJAY, CGHS, ECHS and ESIC may not automatically cover this test. You should check with your insurance provider before testing.
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.