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DNA Labs India

TGFBR2 Gene Marfan syndrome, TGFBR2 related NGS Genetic Test

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TGFBR2 Gene Marfan syndrome, TGFBR2 related NGS Genetic Test

Also known as: TGFBR2 Gene Test, Marfan Syndrome NGS Test

TGFBR2 Gene Marfan syndrome, TGFBR2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

NGS Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the TGFBR2 gene for diagnosing Marfan syndrome and assessing genetic risk.

Test Code
2429
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
NGS Technology
Step 1

Sample Collection

Clinical history review and genetic counseling session recommended.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Sample transported to laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess symptoms and family history.
2
During the Test:Sample collection and processing using NGS technology.
3
After the Test:Report generation, consultation with genetic counselor, and discussion of results.

About This Test

Who Should Get This Test

To identify mutations in the TGFBR2 gene for diagnosing Marfan syndrome and assessing genetic risk.

How to Prepare

  • No fasting required
  • Provide detailed clinical and family history
  • Attend genetic counseling session if advised

Doctor's Notes

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

"Genetic testing for TGFBR2 gene mutations is crucial for diagnosing Marfan syndrome and guiding management to prevent cardiovascular complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate presence or absence of pathogenic variants in the TGFBR2 gene.
📊

Positive

Pathogenic variant detected, consistent with Marfan syndrome diagnosis.

📊

Negative

No pathogenic variants detected, but clinical evaluation may still be needed.

📊

Variant of Uncertain Significance

Genetic variant found but clinical significance unknown; further testing recommended.

⚠️ When to Consult a Doctor:

If symptoms of Marfan syndrome are present, family history exists, or test results are abnormal.

Limitations

  • Test may not detect all genetic variants
  • Results require clinical correlation

Risks & Considerations

  • Psychological stress from results
  • No physical risks from blood draw

Frequently Asked Questions

What is Marfan syndrome?
Marfan syndrome is a genetic disorder affecting connective tissue, leading to issues in the heart, blood vessels, bones, and joints.
What causes Marfan syndrome?
It is primarily caused by mutations in the TGFBR2 gene, which disrupts protein function involved in cell signaling.
What are the symptoms of Marfan syndrome?
Symptoms include tall stature, long limbs, joint hypermobility, spinal curvature, eye problems, and cardiovascular issues like aortic aneurysm.
How is Marfan syndrome diagnosed?
Diagnosis involves physical examination, family history assessment, and genetic testing such as the TGFBR2 gene NGS test.
What is the TGFBR2 gene?
The TGFBR2 gene provides instructions for making a protein involved in cell growth and division; mutations can lead to Marfan syndrome.
What is NGS genetic testing?
Next-generation sequencing (NGS) is a technology that analyzes multiple genes simultaneously to detect genetic mutations.
How much does the TGFBR2 gene test cost?
The test costs INR 20000 in India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What should I do before the test?
Provide clinical history, attend genetic counseling if advised, and no fasting is required.
What do the test results mean?
Results indicate if a pathogenic variant in the TGFBR2 gene is detected, aiding in diagnosis and management.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and family planning.
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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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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