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TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic Test

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TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic Test

Also known as: LDS Type 2A Genetic Test, TGFBR1 Mutation Analysis

TGFBR1 Gene Loeys-Dietz syndrome type 2A 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

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Loeys-Dietz syndrome type 2A by detecting mutations in the TGFBR1 gene using NGS technology.

Test Code
2440
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.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Sample collection via venipuncture or FTA card under sterile conditions.

Step 3

Report Delivery

Sample is processed and sent for NGS analysis. Results are available in 3 to 4 weeks.

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:Sample collection and processing for NGS analysis.
3
After the Test:Results are reviewed with a genetic counselor or physician for management planning.

About This Test

Who Should Get This Test

To diagnose Loeys-Dietz syndrome type 2A by detecting mutations in the TGFBR1 gene using NGS technology.

How to Prepare

  • Ensure proper sample collection using sterile equipment
  • Label samples correctly with patient details
  • Store blood samples at 2-8°C if not processed immediately

Doctor's Notes

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

"Genetic testing for TGFBR1 mutations is essential for confirming Loeys-Dietz syndrome type 2A, enabling personalized management and family screening."

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

Sample Stability

Blood samples: Stable at 2-8°C for up to 48 hours
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results from the TGFBR1 Gene NGS Genetic Test are interpreted based on the presence or absence of pathogenic mutations in the TGFBR1 gene.
Positive: Pathogenic variant detected, confirming Loeys-Dietz syndrome type 2A
Negative: No pathogenic variant detected, but clinical correlation is advised
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

If symptoms of Loeys-Dietz syndrome are present, such as cardiovascular issues, joint hypermobility, or family history of the disorder.

Limitations

  • ⚠May not detect all mutations
  • ⚠Requires genetic counseling
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Sample degradation
  • ●Contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestTGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic TestSanger SequencingClinical Evaluation Alone
ComparisonTGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic TestNGS is more comprehensive for sequencing entire genes and detecting multiple mutations simultaneously.Genetic testing provides definitive diagnosis, whereas clinical evaluation may be suggestive but not confirmatory.

Frequently Asked Questions

What is Loeys-Dietz syndrome type 2A?
Loeys-Dietz syndrome type 2A is a rare genetic disorder caused by mutations in the TGFBR1 gene, affecting connective tissues and leading to symptoms like cardiovascular abnormalities and joint hypermobility.
What does the TGFBR1 gene test involve?
The test uses Next-Generation Sequencing (NGS) to sequence the entire TGFBR1 gene and identify any mutations that may cause Loeys-Dietz syndrome type 2A.
How is the sample collected for this test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used. Home collection services are available across India.
What is the cost of the test?
The test costs INR 20000, which includes home collection and report generation.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home collection available?
Yes, free home sample collection is offered for online bookings across numerous cities in India.
What are the symptoms of LDS type 2A?
Symptoms include heart and blood vessel abnormalities, joint hypermobility, easy bruising, skeletal issues, thin translucent skin, and eye problems like myopia.
How accurate is NGS genetic testing?
NGS is highly accurate for sequencing genes and detecting mutations, but results should be interpreted in conjunction with clinical evaluation.
Do I need genetic counseling before the test?
Yes, genetic counseling is recommended to understand the test implications, draw a family pedigree, and discuss potential outcomes.
What if the test shows a variant of uncertain significance?
Further testing, family studies, or clinical correlation may be needed to determine the variant's significance.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; it is not typically covered under government schemes like PMJAY or CGHS.
Can this test be used for prenatal diagnosis?
Prenatal diagnosis may be possible through genetic testing, but it requires consultation with a genetic specialist and depends on specific circumstances.
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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