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LMNA Gene Restrictive dermopathy, lethal NGS Genetic Test

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LMNA Gene Restrictive dermopathy, lethal NGS Genetic Test

Short Name: LMNA Restrictive Dermopathy NGS Test

Also known as: Restrictive Dermopathy, LMNA-Related Restrictive Dermopathy

LMNA Gene Restrictive dermopathy, lethal NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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)All Ages🏠 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 diagnose restrictive dermopathy by detecting pathogenic mutations in the LMNA gene using next-generation sequencing.

Test Code
5132
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history and genetic counseling session recommended.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture.

Step 3

Report Delivery

Sample processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Blood sample collection and processing for DNA extraction and sequencing.
3
After the Test:Report generation, consultation with healthcare provider, and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose restrictive dermopathy by detecting pathogenic mutations in the LMNA gene using next-generation sequencing.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Transport sample at ambient temperature

Doctor's Notes

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

"Early genetic testing for LMNA mutations is crucial for managing restrictive dermopathy and providing appropriate care 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 Volume3-5 ml of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the LMNA gene associated with restrictive dermopathy.
📊

Pathogenic variant detected

Confirms diagnosis of restrictive dermopathy. Genetic counseling advised for management and family planning.

📊

No pathogenic variant detected

Reduces likelihood of restrictive dermopathy, but clinical correlation needed if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms of restrictive dermopathy are present or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of LMNA mutations
  • ⚠Results require clinical correlation
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Compare With Similar Tests

TestLMNA Gene Restrictive dermopathy, lethal NGS Genetic TestLMNA Gene Sanger SequencingWhole Exome Sequencing
ComparisonLMNA Gene Restrictive dermopathy, lethal NGS Genetic Test

Frequently Asked Questions

What is restrictive dermopathy?
Restrictive dermopathy is a rare genetic disorder caused by mutations in the LMNA gene, leading to thick, tight skin, joint contractures, and often fatal complications in infancy.
What causes restrictive dermopathy?
It is caused by mutations in the LMNA gene, which provides instructions for making proteins essential for nuclear envelope structure and function.
What are the symptoms of restrictive dermopathy?
Common symptoms include thick, tight skin, joint contractures, poor growth, breathing difficulties, abnormal bone development, and heart defects, often present at birth.
How is restrictive dermopathy diagnosed?
Diagnosis is confirmed through genetic testing, such as the LMNA Gene NGS Genetic Test, which detects mutations in the LMNA gene.
What is the LMNA Gene NGS Genetic Test?
It is a next-generation sequencing test that analyzes the LMNA gene for mutations associated with restrictive dermopathy, providing accurate diagnosis.
How much does the test cost?
The LMNA Gene Restrictive Dermopathy NGS Genetic Test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is the test covered by insurance?
Genetic testing for restrictive dermopathy is not always covered by insurance. Patients should check with their insurance provider before testing.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across numerous cities in India.
What should I do before the test?
A genetic counseling session and clinical history review are recommended before testing to understand implications and draw a pedigree chart.
What do the results mean?
Results indicate the presence or absence of LMNA gene mutations. A positive result confirms restrictive dermopathy, while a negative result reduces likelihood but requires clinical correlation.
Can restrictive dermopathy be treated?
There is no cure, but early diagnosis allows for supportive care, symptom management, and genetic counseling to improve quality of life and family planning.
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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