Skip to main content
DNA Labs India

TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic Test

Short Name: TGFBR1 NGS Test

Also known as: TGFBR1 Gene Test, Loeys-Dietz Syndrome Type 1A Genetic Test

TGFBR1 Gene Loeys-Dietz syndrome type 1A 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

The purpose of this test is to detect mutations in the TGFBR1 gene that cause Loeys-Dietz Syndrome Type 1A, aiding in accurate diagnosis, family planning, and personalized treatment strategies.

Test Code
5052
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 specific preparation required. Provide clinical history and family pedigree.

Method: Venipuncture for blood, or saliva collection

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For saliva, follow kit instructions.

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as instructed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss the test, implications, and family history.
2
During the Test:Sample collection procedure as per instructions.
3
After the Test:Wait for results, which will be delivered in 3-4 weeks. Schedule follow-up for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the TGFBR1 gene that cause Loeys-Dietz Syndrome Type 1A, aiding in accurate diagnosis, family planning, and personalized treatment strategies.

How to Prepare

  • No fasting required
  • Provide accurate clinical history
  • Ensure sample is collected properly

Doctor's Notes

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

"Genetic testing for Loeys-Dietz syndrome is crucial for early diagnosis and management, 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 VolumeAs per requirement
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood, or saliva collection

Sample Stability

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

Understanding Your Results

Genetic test results should be interpreted by a qualified genetic counselor or healthcare provider. Positive results indicate a mutation in the TGFBR1 gene associated with Loeys-Dietz Syndrome.
Positive: Pathogenic variant detected, consistent with LDS
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms of LDS, a family history, or after receiving test results for management guidance.

Limitations

  • ⚠Not all mutations may be detected
  • ⚠Results require genetic counseling for interpretation
  • ⚠Does not rule out other genetic disorders

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of results
  • ●Risk of incidental findings

Interfering Factors

  • ●Poor sample quality
  • ●DNA contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestTGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic TestSanger Sequencing for TGFBR1
ComparisonTGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic Test

Frequently Asked Questions

What is Loeys-Dietz Syndrome?
Loeys-Dietz Syndrome (LDS) is a rare genetic disorder that affects connective tissues, caused by mutations in genes like TGFBR1, leading to symptoms such as aortic aneurysms and craniofacial abnormalities.
What does the TGFBR1 gene test detect?
This test detects mutations in the TGFBR1 gene using Next-Generation Sequencing (NGS) to identify genetic variations associated with Loeys-Dietz Syndrome Type 1A.
Who should get this test?
Individuals with symptoms of LDS, a family history of the disorder, or those suspected of having connective tissue disorders should consider this test.
How is the test performed?
The test involves collecting a blood or saliva sample, which is then analyzed using NGS technology to sequence the TGFBR1 gene.
What is the cost of the test?
The cost of the TGFBR1 Gene Loeys-Dietz Syndrome Type 1A NGS Genetic Test at DNA Labs India is INR 20000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate whether pathogenic mutations in the TGFBR1 gene are detected. Positive results suggest LDS, while negative results may require further clinical evaluation.
Is genetic counseling necessary?
Yes, genetic counseling is recommended to interpret test results, understand implications, and discuss family planning or management options.
Are there any risks to the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results. Discuss concerns with your healthcare provider.
Can this test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes. For prenatal diagnosis, consult a genetic counselor for appropriate testing options.
How accurate is the NGS test?
NGS technology is highly sensitive and accurate for detecting genetic variations, but not all mutations may be identified. 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.

Related Tests

WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 3 NGS Genetic Test

₹20,000

FLNB Gene Atelosteogenesis type 1 NGS Genetic Test

₹20,000

EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test

₹20,000

COL11A1 Gene Marshall syndrome NGS Genetic Test

₹20,000

ACTN3 (Sports Gene) Genotyping Test

₹7,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.