Skip to main content
DNA Labs India

FBLN5 Gene Cutis laxa type 2, autosomal dominant NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FBLN5 Gene Cutis laxa type 2, autosomal dominant NGS Genetic Test

Short Name: FBLN5 Gene Test

Also known as: Autosomal Dominant Cutis Laxa Type 2, ADCL2

FBLN5 Gene Cutis laxa type 2, 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Cutis Laxa Type 2 by detecting mutations in the FBLN5 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
4879
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

Provide clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Blood Draw

Step 2

Laboratory Analysis

Standard blood draw procedure; alternatively, DNA extraction from provided sample.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection or DNA extraction.
3
After the Test:Sample analysis via NGS; results delivered in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose Cutis Laxa Type 2 by detecting mutations in the FBLN5 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • Store sample at ambient room temperature
  • For FTA card, follow specific instructions for blood drop application

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early diagnosis through genetic testing can aid in management, family planning, and monitoring for associated complications in Cutis Laxa Type 2."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the FBLN5 gene. Genetic counseling is essential for understanding implications.
📊

Positive for pathogenic variant

Confirms diagnosis of Cutis Laxa Type 2; genetic counseling recommended for family planning.

📊

Negative for pathogenic variant

No mutations detected in FBLN5 gene; clinical correlation advised if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be needed; consult genetic counselor.

⚠️ When to Consult a Doctor:

If experiencing symptoms such as loose skin, joint hypermobility, or respiratory issues, or if there is a family history of Cutis Laxa Type 2.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the FBLN5 Gene Cutis Laxa Type 2 NGS Genetic Test?
It is a Next-Generation Sequencing test that detects mutations in the FBLN5 gene to diagnose Cutis Laxa Type 2, an autosomal dominant genetic disorder.
What are the symptoms of Cutis Laxa Type 2?
Symptoms include loose, saggy skin, wrinkles, poor wound healing, joint hypermobility, respiratory problems, gastrointestinal issues, developmental delays, and intellectual disability.
How is the test performed?
The test uses a blood sample or extracted DNA, analyzed via NGS technology to identify mutations in the FBLN5 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, which includes genetic counseling and result interpretation.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result confirms a mutation in the FBLN5 gene, indicating Cutis Laxa Type 2. Genetic counseling is recommended for management and family planning.
Is fasting required for the test?
No, fasting is not required for this genetic test.
Who should consider this test?
Individuals with symptoms of Cutis Laxa Type 2 or a family history of the condition should consider testing.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
How accurate is the NGS test?
NGS technology is highly accurate for detecting genetic mutations, but results should be interpreted by a genetic counselor in clinical context.
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

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

ENPP1 Gene Cole disease NGS Genetic Test

₹20,000
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.