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DNA Labs India

TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic Test

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TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic Test

TGFBR2 Gene Loeys-Dietz syndrome type 1B 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)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-Dietz Syndrome Type 1B, enabling early intervention and management of associated health risks.

Test Code
5054
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Loeys-Dietz Syndrome Type 1B.

Step 2

Laboratory Analysis

Your sample is analyzed using Next Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:The test involves Next Generation Sequencing of the TGFBR2 gene from a blood or DNA sample.
3
After the Test:Results are available in 3 to 4 weeks, with genetic counseling provided to discuss findings.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-Dietz Syndrome Type 1B, enabling early intervention and management of associated health risks.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"Early diagnosis through genetic testing is vital for managing Loeys-Dietz Syndrome Type 1B, as it allows for timely intervention to prevent life-threatening cardiovascular complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the TGFBR2 gene. A positive result confirms Loeys-Dietz Syndrome Type 1B, while a negative result suggests no known mutations, but clinical correlation is advised.
📊

Positive

Pathogenic variant detected in TGFBR2 gene, consistent with Loeys-Dietz Syndrome Type 1B. Genetic counseling and further clinical evaluation recommended.

📊

Negative

No pathogenic variants detected. However, clinical symptoms may warrant additional testing or monitoring.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms suggestive of Loeys-Dietz Syndrome are present, or if family history indicates risk, for appropriate testing and management.

Frequently Asked Questions

What is Loeys-Dietz Syndrome Type 1B?
Loeys-Dietz Syndrome Type 1B is a rare genetic disorder caused by mutations in the TGFBR2 gene, affecting connective tissues and leading to symptoms like cardiovascular issues, joint hypermobility, and skin abnormalities.
What does the TGFBR2 Gene Loeys-Dietz Syndrome Type 1B NGS Genetic Test involve?
This test uses Next Generation Sequencing to analyze the TGFBR2 gene for mutations associated with Loeys-Dietz Syndrome Type 1B, typically from a blood or DNA sample.
Who should consider this genetic test?
Individuals with symptoms such as skull abnormalities, heart defects, joint hypermobility, or a family history of Loeys-Dietz Syndrome should consider this test.
What is the cost of the test at DNA Labs India?
The test costs INR 20000, with free home sample collection available across India.
Is the test covered by insurance?
This test may not be covered by insurance; patients should check with their insurance provider for coverage details.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted for the test?
Accepted samples include blood, extracted DNA, or one drop of blood on an FTA card.
Is genetic counseling provided with the test?
Yes, DNA Labs India offers genetic counseling to help patients and families understand the test results and implications.
What are the risks of the test?
The test itself has minimal physical risks, but psychological impacts may occur; genetic counseling is provided to address concerns.
How accurate is the NGS technology used?
NGS technology is highly accurate for detecting genetic mutations, ensuring reliable results for diagnosis.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What should I do if the test result is positive?
A positive result indicates Loeys-Dietz Syndrome Type 1B; consult a geneticist or specialist for management and family screening.
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 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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