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FBN1 Gene Marfan syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FBN1 Gene Marfan syndrome NGS Genetic Test

Short Name: FBN1 NGS Test

Also known as: FBN1 mutation test, Marfan syndrome DNA test, Fibrillin-1 gene 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 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 Marfan Syndrome NGS Genetic Test is to identify mutations in the FBN1 gene that cause Marfan syndrome. This test confirms diagnosis in symptomatic individuals, aids in differential diagnosis of connective tissue disorders, supports genetic counseling for affected families, and guides personalized medical management to prevent complications such as aortic dissection.

Test Code
2545
CPT Code
81405
ICD Code
Q87.4
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation such as fasting is required. Provide clinical history and family pedigree chart as advised during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for a single drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store the sample as per instructions before dispatch.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to understand the test implications and provide family history. No fasting required.
2
During the Test:Blood sample collection takes about 10-15 minutes. The sample is sent to the lab for NGS analysis.
3
After the Test:Resume normal activities. Monitor the puncture site for any discomfort. Reports will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the FBN1 Gene Marfan Syndrome NGS Genetic Test is to identify mutations in the FBN1 gene that cause Marfan syndrome. This test confirms diagnosis in symptomatic individuals, aids in differential diagnosis of connective tissue disorders, supports genetic counseling for affected families, and guides personalized medical management to prevent complications such as aortic dissection.

How to Prepare

  • Ensure sample is labeled correctly
  • Avoid hemolysis in blood samples
  • Use sterile containers for DNA extraction

Doctor's Notes

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

"Genetic testing for Marfan syndrome is crucial for early diagnosis and management, especially in families with a history of the condition."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated7 days
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or mislabeled samples
  • Improper storage conditions

Understanding Your Results

Results from the FBN1 Gene Marfan Syndrome NGS Genetic Test indicate the presence or absence of mutations in the FBN1 gene. A positive result confirms Marfan syndrome diagnosis, while a negative result may require further clinical evaluation.
📊

Positive for pathogenic mutation

Confirms Marfan syndrome. Recommend cardiology follow-up, echocardiography, and genetic counseling.

📊

Negative for mutation

Marfan syndrome unlikely based on FBN1 analysis. Consider other genetic or clinical causes.

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation needed. Genetic counseling advised.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as chest pain, shortness of breath, vision changes, or if you have a family history of Marfan syndrome. After a positive test result, seek immediate medical advice for management.

Limitations

  • ⚠May not detect all types of FBN1 mutations
  • ⚠Results require clinical correlation
  • ⚠Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Degraded DNA samples
  • ●Contamination during sample collection

Frequently Asked Questions

What is the FBN1 Gene Marfan Syndrome NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to analyze the FBN1 gene for mutations causing Marfan syndrome.
Who should take this test?
Individuals with symptoms of Marfan syndrome, such as tall stature, long limbs, heart issues, or a family history of the condition.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to detect mutations in the FBN1 gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the FBN1 Gene Marfan Syndrome NGS Genetic Test.
What do the results mean?
A positive result confirms Marfan syndrome, while a negative result may indicate no mutation in the FBN1 gene. Genetic counseling is recommended.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting FBN1 gene mutations, but results should be correlated with clinical findings.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes in symptomatic individuals. Prenatal testing may require additional validation.
What are the risks of the test?
Risks are minimal, such as minor bruising from blood draw. Psychological impact of results should be considered.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
How do I prepare for the test?
No special preparation is needed. Provide your clinical history and family pedigree during genetic counseling.
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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