FBN1 Gene Stiff skin syndrome NGS Genetic Test
Short Name: FBN1 NGS Stiff Skin
Also known as: Stiff Skin Syndrome Genetic Test, FBN1 Gene Sequencing, NGS for Stiff Skin Syndrome
FBN1 Gene Stiff skin syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the FBN1 gene that cause Stiff Skin Syndrome. It aids in confirming clinical suspicion, differentiating from similar conditions, and providing essential information for genetic counseling and management.
- Test Code
- 5942
- CPT Code
- 81408
- ICD Code
- Q82.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to draw a pedigree chart and discuss the implications of the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the FBN1 gene that cause Stiff Skin Syndrome. It aids in confirming clinical suspicion, differentiating from similar conditions, and providing essential information for genetic counseling and management.
How to Prepare
- Ensure the sample is labeled correctly with patient details
- For blood sample, use EDTA vacutainer
- For FTA card, allow the blood spot to dry completely before packaging
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of Stiff Skin Syndrome is crucial for management and family counseling. NGS provides a comprehensive analysis of the FBN1 gene."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Stiff Skin Syndrome. Genetic counseling recommended for family members.
Likely pathogenic variant detected
High likelihood of disease. Further clinical correlation and family studies advised.
Variant of Uncertain Significance (VUS)
Cannot determine clinical significance. Additional testing or family segregation analysis may be needed.
No pathogenic variant detected
Reduces likelihood of FBN1-related Stiff Skin Syndrome, but does not exclude it. Consider other genetic causes.
If you or a family member experience symptoms such as skin hardening, joint stiffness, or short stature, consult a geneticist or rheumatologist for evaluation. Genetic testing can provide clarity.
Limitations
- ⚠NGS may not detect all types of mutations (e.g., large rearrangements)
- ⚠Variants of uncertain significance (VUS) may require further family studies
- ⚠Test does not assess non-genetic causes of symptoms
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS (may require additional testing)
Compare With Similar Tests
| Test | FBN1 Gene Stiff skin syndrome NGS Genetic Test | Single Gene Sequencing (FBN1) | Whole Exome Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | FBN1 Gene Stiff skin syndrome NGS Genetic Test |
Frequently Asked Questions
What is Stiff Skin Syndrome?
How is the FBN1 gene related to Stiff Skin Syndrome?
What is the cost of the FBN1 Gene Stiff Skin Syndrome NGS Genetic Test?
What sample is required for this test?
Do I need to fast before the test?
How long does it take to get the results?
Is home sample collection available?
What does the NGS test detect?
Can this test be used for prenatal diagnosis?
What is a Variant of Uncertain Significance (VUS)?
Will insurance cover this test?
Who should consider this test?
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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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