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LMNA Gene Muscular dystrophy, congenital, LMNA related NGS Genetic Test

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LMNA Gene Muscular dystrophy, congenital, LMNA related NGS Genetic Test

Short Name: LMNA NGS Test

Also known as: LMNA-Related Congenital Muscular Dystrophy Sequencing, LMNA Gene Mutation Analysis, CMD LMNA NGS Test

LMNA Gene Muscular dystrophy, congenital, LMNA related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card Blood samples. Results in 3 to 4 weeks after sample submission.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify clinically significant variants in the LMNA gene associated with congenital muscular dystrophy. It confirms the clinical diagnosis, helps predict prognosis, informs cardiac surveillance, supports reproductive planning, and guides management decisions.

Test Code
4351
Price
₹20,000
Sample Type
Blood or Extracted DNA or FTA Card Blood
Result Time
3 to 4 weeks after sample submission.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A detailed clinical history and consent form should be completed. Genetic counselling is recommended before testing.

Method: Venipuncture or FTA Card Spot

Step 2

Laboratory Analysis

A small volume of blood will be collected from a vein in your arm. For FTA card sampling, a single drop of blood is spotted onto the card.

Step 3

Report Delivery

You may resume all normal activities. No special precautions are needed.

Timeline: 3 to 4 weeks after sample submission.

Patient Instructions

1
Before the Test:No fasting is required. Please bring your clinical history, prior test results, and family pedigree if available. A genetic counselling session is recommended before testing.
2
During the Test:A blood sample is drawn by a trained phlebotomist. Alternatively, a drop of blood is placed on an FTA card. The collection takes less than 5 minutes.
3
After the Test:You can leave immediately and resume daily activities. You will receive updates on the progress of your sample and an email when your report is ready.

About This Test

Who Should Get This Test

The purpose of this test is to identify clinically significant variants in the LMNA gene associated with congenital muscular dystrophy. It confirms the clinical diagnosis, helps predict prognosis, informs cardiac surveillance, supports reproductive planning, and guides management decisions.

How to Prepare

  • Use an EDTA vacutainer for blood collection.
  • For FTA card, ensure the card is completely dry before packing.
  • Label the sample with patient's full name, date of birth, and date of collection.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for LMNA-related congenital muscular dystrophy should be considered in any patient with early-onset muscle weakness, especially when cardiac involvement is present. Early molecular diagnosis allows surveillance and intervention that can significantly improve outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or FTA Card Blood
Sample Volume3 mL Blood or 1 drop on FTA Card
ContainerEDTA Vacutainer or FTA Card
Collection MethodVenipuncture or FTA Card Spot

Sample Stability

Whole blood in EDTA: 5-7 days at 2-8°C.
Extracted DNA: Stable for 1 year at -20°C.
FTA card: Stable at room temperature for 6 months.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • Insufficient sample volume
  • Mismatched or unlabelled sample

Understanding Your Results

The genetic test report interprets sequence variants in the LMNA gene using ACMG/AMP guidelines. The interpretation is integrated with clinical findings and family history.
Positive for pathogenic/likely pathogenic variant: Confirms the diagnosis and helps guide cardiac surveillance.
Negative result: Reduces the likelihood of LMNA-related muscular dystrophy but may not fully exclude it.
Variant of uncertain significance (VUS): Not classified as disease-causing; additional testing of family members may help clarify.
⚠️ When to Consult a Doctor:

If you or a relative experience unexplained muscle weakness, delayed development, or cardiac symptoms, consult a neurologist or medical geneticist. A positive family history of muscular dystrophy is another reason to seek genetic counselling.

Limitations

  • ⚠This test may not detect large deletions/duplications or deep intronic regulatory variants.
  • ⚠Variants of uncertain significance (VUS) may require further family studies.
  • ⚠A negative result does not exclude a genetic cause; a broader muscular dystrophy panel may be considered.

Risks & Considerations

  • ●Mild pain or bruising at the puncture site
  • ●Infection (rare)
  • ●Excessive bleeding (rare)

Interfering Factors

  • ●Poor DNA quality or quantity may lead to no-call results.
  • ●Maternal cell contamination in prenatal or umbilical cord blood samples.
  • ●Presence of pseudogenes or homologous sequences may affect variant calling.

Compare With Similar Tests

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Frequently Asked Questions

What is the LMNA gene?
The LMNA gene provides instructions for making lamin A and lamin C proteins, which support the nuclear envelope of cells. Mutations can lead to various conditions, including congenital muscular dystrophy.
What is congenital muscular dystrophy?
Congenital muscular dystrophy (CMD) is a rare genetic disorder that causes muscle weakness and degeneration present from birth or early infancy. It may affect muscles, heart, and respiratory system.
What symptoms are associated with LMNA-related congenital muscular dystrophy?
Typical symptoms include muscle weakness in neck, trunk, and limbs; delayed motor milestones; poor muscle tone; scoliosis; cardiac issues such as arrhythmia or cardiomyopathy; and respiratory difficulties.
Why is genetic testing important for this condition?
Genetic testing is the most definitive way to diagnose LMNA-related CMD, identify carriers, guide management, and enable reproductive planning. It can be done even before symptoms fully appear.
What is Next-Generation Sequencing (NGS)?
NGS is a high-throughput sequencing technology that can rapidly sequence complete genes or gene panels. It is highly sensitive and more cost-effective than traditional Sanger sequencing for this indication.
What type of sample is required for this test?
The test can be performed on a blood sample, extracted DNA, or a single drop of blood on an FTA card. Sample collection is simple and allows for home collection.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to receive the report?
The turnaround time for the LMNA NGS genetic test is typically 3 to 4 weeks after the sample is received by the laboratory.
What is the cost of the LMNA NGS genetic test in India?
The cost is approximately INR 20,000. DNA Labs India offers free home sample collection for online bookings in select cities across the country.
Does insurance cover this genetic test?
Coverage depends on the policy and the network tie-up. It is not automatically covered under government schemes; you may need to check with your insurer for reimbursement options.
What does the test report include?
The report includes detection of variants in the LMNA gene, variant classification (e.g., pathogenic, benign, VUS), and a clinical interpretation with counselling recommendations. Raw data files such as FASTQ and VCF are provided.
Can this test be done for children or newborns?
Yes, this test is suitable for individuals of all ages, including children and newborns, when there is a clinical suspicion of LMNA-related congenital muscular dystrophy.
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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