FBN1 Gene Marfan syndrome NGS Genetic Test
Short Name: FBN1 NGS
Also known as: Marfan syndrome genetic test, FBN1 gene sequencing, Fibrillin-1 mutation test
FBN1 Gene Marfan 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 delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of the FBN1 gene NGS genetic test is to identify pathogenic mutations in the FBN1 gene that cause Marfan syndrome. This test aids in confirming a clinical diagnosis, guiding management and surveillance, enabling familial cascade screening, and providing information for reproductive planning. It is also useful in differentiating Marfan syndrome from other connective tissue disorders with overlapping features.
- Test Code
- 5833
- CPT Code
- 81408
- ICD Code
- Q87.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications and obtain informed consent.
Method: Venipuncture or FTA card spot
Laboratory Analysis
A blood sample is drawn by a trained phlebotomist. If using FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the FBN1 gene NGS genetic test is to identify pathogenic mutations in the FBN1 gene that cause Marfan syndrome. This test aids in confirming a clinical diagnosis, guiding management and surveillance, enabling familial cascade screening, and providing information for reproductive planning. It is also useful in differentiating Marfan syndrome from other connective tissue disorders with overlapping features.
How to Prepare
- Ensure patient identity verification
- Use sterile EDTA vacutainer for blood collection
- If FTA card, apply one drop of blood to each circle and air dry
- Label the sample with patient name, date, and unique ID
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic confirmation of FBN1 mutations is crucial for managing Marfan syndrome and preventing life-threatening aortic complications."
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 Marfan syndrome; genetic counseling and family screening recommended.
Likely pathogenic variant detected
High likelihood of disease; clinical correlation and family studies advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; further testing of family members may help.
No pathogenic variant detected
Reduces likelihood of Marfan syndrome; consider other connective tissue disorders if clinical suspicion remains.
Consult a clinical geneticist or cardiologist if you have symptoms suggestive of Marfan syndrome, a family history of the condition, or if you have received a positive genetic test result. Early consultation is essential for cardiovascular surveillance and management.
Limitations
- ⚠This test does not detect large gene rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not exclude Marfan syndrome if clinical criteria are met; other genes may be involved
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic test results
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS (may require MLPA)
Compare With Similar Tests
| Test | FBN1 Gene Marfan syndrome NGS Genetic Test | FBN1 Gene Sequencing (Sanger) | Marfan Syndrome Panel (NGS) | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | FBN1 Gene Marfan syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the FBN1 gene Marfan syndrome NGS test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Is home sample collection available?
What does the test detect?
Who should take this test?
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Are there any risks associated with the test?
Can this test be done for children?
What is the difference between NGS and Sanger sequencing?
Will insurance cover the cost?
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₹20,000Reference 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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✓ 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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