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TGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test

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TGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test

Short Name: TGFBR1 NGS Test

Also known as: TGFBR1 Gene Test, Marfan Syndrome Genetic Test, TGFBR1-Related Disorder Test

TGFBR1 Gene Marfan syndrome, TGFBR1 related 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.

Next-Generation Sequencing (NGS)🏠 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

To diagnose Marfan syndrome caused by TGFBR1 gene mutations and assess family risk for early intervention and management.

Test Code
2438
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

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Standard blood collection via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed for DNA extraction and analyzed using NGS technology.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:DNA extraction and next-generation sequencing analysis are performed in the laboratory.
3
After the Test:Results are reviewed by geneticists and a clinical report is generated.

About This Test

Who Should Get This Test

To diagnose Marfan syndrome caused by TGFBR1 gene mutations and assess family risk for early intervention and management.

How to Prepare

  • Provide detailed clinical history
  • Attend genetic counseling session
  • Ensure proper sample collection in EDTA tube or FTA card
  • Label samples correctly

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Marfan syndrome, especially in families with a history of connective tissue disorders."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood: 24 hours at room temperature
Extracted DNA: stable for up to 1 week at 4°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or contaminated sample
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TGFBR1 gene associated with Marfan syndrome.
📊

Positive

Pathogenic mutation detected, confirming Marfan syndrome or related disorder.

📊

Negative

No pathogenic mutation detected, but clinical correlation is advised.

📊

Variant of Uncertain Significance

Genetic variant found with unclear clinical significance; further testing may be needed.

⚠️ When to Consult a Doctor:

If symptoms of Marfan syndrome are present, such as tall stature, heart issues, or lens dislocation, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample storage

Compare With Similar Tests

TestTGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test
ComparisonTGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test

Frequently Asked Questions

What is the TGFBR1 Gene Marfan Syndrome NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the TGFBR1 gene associated with Marfan syndrome.
How much does the test cost?
The test costs INR 20,000, including home sample collection across India.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home collection is offered for online bookings in many cities across India.
What are the symptoms of Marfan syndrome?
Symptoms include tall stature, long limbs, aortic aneurysm, heart murmur, scoliosis, lens dislocation, stretch marks, and flat feet.
How is Marfan syndrome diagnosed?
Diagnosis involves physical examination, medical history, and genetic testing for TGFBR1 gene mutations.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the TGFBR1 gene, confirming Marfan syndrome or related disorder.
Can the test detect all mutations?
While highly accurate, it may not detect all genetic variants; genetic counseling is recommended for interpretation.
Is genetic counseling necessary before testing?
Yes, a genetic counseling session is recommended to understand implications and draw a family pedigree chart.
Is the test covered by insurance?
Coverage varies; check with your insurance provider for details on genetic testing coverage.
How accurate is the NGS genetic test?
The test uses advanced NGS technology for high accuracy, but results should be correlated with clinical findings.
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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