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ELN Gene Cutis laxa, autosomal dominant NGS Genetic Test

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ELN Gene Cutis laxa, autosomal dominant NGS Genetic Test

Short Name: ELN Cutis Laxa NGS Test

Also known as: Autosomal Dominant Cutis Laxa, ELN-Related Cutis Laxa

ELN Gene Cutis laxa, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

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 mutations in the ELN gene for diagnosis of autosomal dominant cutis laxa, assess disease severity, guide treatment, and provide genetic counseling for affected individuals and families.

Test Code
4883
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 Technology
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with ELN gene cutis laxa.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample stored at ambient room temperature and transported to lab for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended.
2
During the Test:Blood sample collection for NGS analysis.
3
After the Test:Results available in 3-4 weeks with genetic counseling report.

About This Test

Who Should Get This Test

To identify mutations in the ELN gene for diagnosis of autosomal dominant cutis laxa, assess disease severity, guide treatment, and provide genetic counseling for affected individuals and families.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure proper sample labeling

Doctor's Notes

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

"Early genetic testing for ELN gene mutations is crucial for managing symptoms and informing family planning in autosomal dominant cutis laxa."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card

Sample Stability

Blood: 24 hours at room temperature
FTA Card: Stable for weeks
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ELN gene. A positive result confirms diagnosis, while negative may require further testing.
Positive: Pathogenic variant detected, consistent with diagnosis
Negative: No variant detected, consider other causes
Variant of uncertain significance: Requires clinical correlation and family studies
⚠️ When to Consult a Doctor:

If symptoms such as loose skin, breathing issues, or developmental delays are present, or if there is a family history of cutis laxa.

Limitations

  • ⚠May not detect all variants in the ELN gene
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk

Interfering Factors

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

Compare With Similar Tests

TestELN Gene Cutis laxa, autosomal dominant NGS Genetic TestFBLN5 Gene Cutis Laxa TestGeneral Connective Tissue Panel
ComparisonELN Gene Cutis laxa, autosomal dominant NGS Genetic Test

Frequently Asked Questions

What is ELN Gene Cutis Laxa?
It is a rare genetic disorder caused by mutations in the ELN gene, leading to defective elastin and symptoms like loose skin and organ abnormalities.
What are the common symptoms?
Symptoms include loose, sagging skin, wrinkles, prominent veins, breathing difficulties, heart issues, joint hypermobility, and developmental delays.
How is ELN Gene Cutis Laxa diagnosed?
Diagnosis involves clinical evaluation, genetic testing (like NGS), and imaging studies such as echocardiograms.
What is NGS genetic testing?
NGS (Next Generation Sequencing) is a advanced method for rapid and accurate analysis of multiple genes, including ELN, to identify mutations.
What is the cost of this test in India?
The cost is INR 20000.0 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of cutis laxa, family history of the disorder, or those seeking genetic confirmation.
What are the treatment options for ELN Gene Cutis Laxa?
Treatment focuses on symptom management, such as skin care, respiratory support, and cardiac monitoring, guided by genetic diagnosis.
Is the test covered by insurance?
Coverage varies; check with your insurance provider. DNA Labs offers discounted pricing.
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.

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.

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