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FBN1 Gene Stiff skin syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FBN1 Gene Stiff skin syndrome NGS Genetic Test

Short Name: FBN1 Stiff Skin Syndrome Test

FBN1 Gene Stiff skin syndrome 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

The purpose of the FBN1 Gene Stiff Skin Syndrome NGS Genetic Test is to identify mutations in the FBN1 gene for the diagnosis of Stiff Skin Syndrome, confirm clinical suspicions, enable carrier testing, support genetic counseling, and guide management strategies to improve patient outcomes.

Test Code
5140
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 the patient and a genetic counseling session to draw a pedigree chart of affected family members are required before sample collection.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection involves drawing blood or using an FTA card, performed by a trained phlebotomist.

Step 3

Report Delivery

Samples are processed in the lab using NGS technology, and reports are generated within 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:The test involves NGS analysis of the FBN1 gene from a blood or DNA sample.
3
After the Test:Results are delivered online, and follow-up with a genetic counselor or physician is advised.

About This Test

Who Should Get This Test

The purpose of the FBN1 Gene Stiff Skin Syndrome NGS Genetic Test is to identify mutations in the FBN1 gene for the diagnosis of Stiff Skin Syndrome, confirm clinical suspicions, enable carrier testing, support genetic counseling, and guide management strategies to improve patient outcomes.

How to Prepare

  • Ensure proper identification and consent
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Store samples at ambient room temperature if not immediately processed

Doctor's Notes

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

"This test is crucial for confirming diagnosis in suspected cases and for genetic counseling in families with a history of Stiff Skin Syndrome."

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

Understanding Your Results

Results indicate the presence or absence of mutations in the FBN1 gene. A positive result confirms Stiff Skin Syndrome diagnosis, while negative results may require further testing if clinical suspicion remains.
Pathogenic variant detected: Confirms diagnosis of Stiff Skin Syndrome
No variant detected: Reduces likelihood but does not rule out other genetic causes
Variant of uncertain significance: Requires additional family studies or clinical correlation
Carrier status: Indicates the individual carries a mutation but may not show symptoms
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like thickened skin, joint stiffness, or have a family history of Stiff Skin Syndrome. Genetic counseling is advised for carrier testing and family planning.

Limitations

  • ⚠This test may not detect all types of mutations in the FBN1 gene
  • ⚠Results should be interpreted in conjunction with clinical findings and family history
  • ⚠Genetic counseling is recommended before and after testing

Risks & Considerations

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

Frequently Asked Questions

What is Stiff Skin Syndrome?
Stiff Skin Syndrome is a rare genetic disorder that causes the skin to become thick, hard, and inflexible, affecting joint movement and often presenting in childhood.
What causes Stiff Skin Syndrome?
It is caused by mutations in the FBN1 gene, which is involved in connective tissue formation.
What are the common symptoms?
Symptoms include thickened skin, limited joint mobility, muscle weakness, short stature, and abnormal bone growth.
How is Stiff Skin Syndrome diagnosed?
Diagnosis is confirmed through genetic testing, such as the FBN1 Gene NGS Test, to detect mutations in the FBN1 gene.
What does the FBN1 Gene Stiff Skin Syndrome NGS Genetic Test involve?
It uses Next-Generation Sequencing to analyze the FBN1 gene for mutations from a blood or DNA sample.
How much does the test cost?
The test costs INR 20,000, with home sample collection available across India.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
Who should consider this test?
Individuals with symptoms of Stiff Skin Syndrome, a family history of the disorder, or those seeking genetic counseling for family planning.
What are the benefits of genetic testing?
Benefits include accurate diagnosis, early detection, carrier identification, and prevention of disease transmission to future generations.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
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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