TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic Test
Short Name: TGFBR2 Gene Loeys-Dietz Test
Also known as: TGFBR2 Gene Test, Loeys-Dietz Syndrome Type 2B Genetic Test, TGFBR2 Mutation Analysis
TGFBR2 Gene Loeys-Dietz syndrome type 2B 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-Dietz Syndrome Type 2B, guide medical management, assess risk for family members, and support genetic counseling.
- Test Code
- 2433
- 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
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 are recommended before testing.
Method: Blood Draw
Laboratory Analysis
A blood sample is collected via venipuncture, or alternatively, extracted DNA or a blood drop on an FTA card can be used.
Report Delivery
The sample is processed in the laboratory for NGS analysis. No specific post-collection care is required.
Timeline: 3 to 4 Weeks
Patient Instructions
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 2B, guide medical management, assess risk for family members, and support genetic counseling.
How to Prepare
- Ensure proper identification and labeling of the sample.
- Use sterile equipment for blood collection.
- Store samples at ambient room temperature if not processed immediately.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed or insufficient sample
- Improperly labeled or contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Loeys-Dietz Syndrome Type 2B. Clinical correlation and genetic counseling are recommended.
No pathogenic variant detected
No mutations found in the TGFBR2 gene. Consider other genetic tests if clinical suspicion remains.
Variant of uncertain significance
Further testing and family studies may be needed for clarification.
Consult a doctor if you experience symptoms such as heart defects, blood vessel abnormalities, joint issues, or have a family history of Loeys-Dietz Syndrome. Genetic counseling is advised before and after testing.
Limitations
- ⚠This test only analyzes the TGFBR2 gene; other genes associated with similar syndromes are not covered.
- ⚠Results may require confirmation with clinical evaluation and family history.
- ⚠Genetic variants of uncertain significance may be identified.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or fainting
Frequently Asked Questions
What is Loeys-Dietz Syndrome?
What is the TGFBR2 gene?
How is the TGFBR2 Gene Loeys-Dietz Syndrome Type 2B NGS Genetic Test performed?
What is the cost of the test?
Who should get this test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Is home sample collection available?
What do the results mean?
Can this test be used for prenatal diagnosis?
What should I do after receiving the results?
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₹20,000Reference 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.
Your Data Privacy
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✓ 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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