FBN1 Gene MASS syndrome NGS Genetic Test
Short Name: FBN1 MASS NGS
Also known as: MASS syndrome genetic test, FBN1 gene sequencing, Connective tissue disorder NGS panel
FBN1 Gene MASS 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 3 to 4 weeks from sample receipt at the laboratory.. 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 detect mutations in the FBN1 gene that are associated with MASS syndrome. It helps confirm a clinical diagnosis, differentiate from other connective tissue disorders like Marfan syndrome, and provide information for genetic counseling and family planning.
- Test Code
- 5832
- CPT Code
- 81408
- ICD Code
- Q87.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from 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 the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. If using FTA card, a fingerstick blood drop is applied.
Report Delivery
No specific aftercare is required. The sample will be sent to the laboratory for analysis.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the FBN1 gene that are associated with MASS syndrome. It helps confirm a clinical diagnosis, differentiate from other connective tissue disorders like Marfan syndrome, and provide information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark.
- For FTA card: Apply one drop of blood onto the designated circle.
- Ensure sample is labeled with patient's name and date of birth.
- Transport sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"MASS syndrome is a rare connective tissue disorder with overlapping features with Marfan syndrome. Genetic testing is essential for accurate diagnosis and management."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of MASS syndrome. Genetic counseling recommended for family members.
Variant of uncertain significance (VUS)
Further testing of family members may be needed to determine pathogenicity.
No pathogenic mutation detected
MASS syndrome is less likely, but clinical correlation is advised.
If you or a family member experience symptoms suggestive of MASS syndrome, such as unexplained tall stature, joint hypermobility, or aortic issues, consult a clinical geneticist or cardiologist for evaluation and testing.
Limitations
- ⚠This test does not detect all possible mutations in the FBN1 gene; some variants may be missed.
- ⚠Variants of uncertain significance may be reported; further family studies may be needed.
- ⚠Negative result does not completely rule out MASS syndrome if clinical suspicion is high.
- ⚠Test is not intended for prenatal diagnosis unless specifically requested.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Poor sample quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplantation (may affect results)
Compare With Similar Tests
| Test | FBN1 Gene MASS syndrome NGS Genetic Test | Marfan Syndrome NGS Panel | Connective Tissue Disorder Comprehensive Panel | Single Gene FBN1 Sequencing |
|---|---|---|---|---|
| Comparison | FBN1 Gene MASS syndrome NGS Genetic Test | Includes FBN1 and other genes like TGFBR1/2, but focuses on Marfan syndrome criteria. | Covers more genes (e.g., COL genes) for broader differential diagnosis. | Only FBN1 gene, not NGS-based, lower cost but less comprehensive. |
Frequently Asked Questions
What is MASS syndrome?
How is MASS syndrome diagnosed?
What is the cost of the FBN1 gene MASS syndrome NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done for children?
What does a positive result mean?
What if the result is negative?
Are there any risks associated with the test?
Is genetic counseling provided?
In which cities is home sample collection available?
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₹7,000Reference 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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