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FBN1 Gene MASS syndrome NGS Genetic Test

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FBN1 Gene MASS syndrome NGS Genetic Test

Short Name: FBN1 MASS Syndrome Test

Also known as: MASS phenotype

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 3-4 weeks. Free home collection in 300+ cities across India.

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 detect mutations in the FBN1 gene associated with MASS syndrome and related connective tissue disorders for diagnostic and management purposes.

Test Code
2540
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history review and genetic counseling session recommended to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using FTA card for one drop of blood.

Step 3

Report Delivery

Sample transported to the laboratory for NGS analysis.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Report generation within 3-4 weeks, followed by genetic counseling to discuss results.

About This Test

Who Should Get This Test

To detect mutations in the FBN1 gene associated with MASS syndrome and related connective tissue disorders for diagnostic and management purposes.

How to Prepare

  • No fasting required
  • Provide detailed clinical and family history
  • Attend genetic counseling session if advised
  • Ensure sample is properly labeled and stored

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect sample labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the FBN1 gene, which may be associated with MASS syndrome or related conditions.
Positive result: Pathogenic mutation detected, indicating increased risk for MASS syndrome; consult a geneticist for management.
Negative result: No pathogenic variants found, but clinical correlation is necessary; consider other genetic tests if symptoms persist.
Variant of uncertain significance: Further testing and family studies may be required.
⚠️ When to Consult a Doctor:

If you have symptoms of MASS syndrome, a family history of the condition, or receive a positive genetic test result, consult a healthcare provider or genetic counselor immediately.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require interpretation by a genetic counselor
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal risk from blood draw such as bruising or infection
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Frequently Asked Questions

What is MASS syndrome?
MASS syndrome is a genetic disorder affecting connective tissues, characterized by Mitral Valve Prolapse, Aortic Enlargement, Skin and Skeletal findings. It is milder than Marfan syndrome.
What is the FBN1 gene?
The FBN1 gene provides instructions for making fibrillin-1, a protein essential for connective tissue formation. Mutations in this gene are often linked to Marfan syndrome.
How is MASS syndrome diagnosed?
Diagnosis involves genetic testing, such as the NGS test for the FBN1 gene, along with clinical evaluation of symptoms and family history.
What does the NGS genetic test involve?
Next Generation Sequencing (NGS) analyzes the DNA to identify mutations in the FBN1 gene. It requires a blood sample or extracted DNA.
What are the symptoms of MASS syndrome?
Symptoms include tall stature, long limbs, scoliosis, flat feet, nearsightedness, enlarged aorta, and joint pain. Risks include aortic aneurysm and lens dislocation.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but it is generally not painful.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the test?
The FBN1 Gene MASS Syndrome NGS Genetic Test costs INR 20,000 in India, with free home sample collection available.
Is home collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
Can the test detect other conditions?
The test specifically analyzes the FBN1 gene, which may be associated with Marfan syndrome and related disorders, but it is not a comprehensive panel for all genetic conditions.
What should I do if the test is positive?
If positive, consult a geneticist or healthcare provider for further evaluation, management, and family screening.
Is genetic counseling included?
Genetic counseling is recommended before and after testing to discuss implications, results, and management options.
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.

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✓ 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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