SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic Test
Short Name: SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Test
Also known as: SMAD3 Gene Test, LDS Type 1C Genetic Test, Loeys-Dietz Syndrome Type 1C NGS Test
SMAD3 Gene Loeys-Dietz syndrome type 1C 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic Test is to identify pathogenic mutations in the SMAD3 gene that cause Loeys-Dietz syndrome type 1C. This test aids in confirming diagnosis, assessing risk for family members, informing treatment decisions, and enabling genetic counseling for affected individuals and their families.
- Test Code
- 2442
- 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)
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
Laboratory Analysis
Sample collection via venipuncture for blood or use of extracted DNA or one drop blood on FTA card.
Report Delivery
Sample is processed in the laboratory for NGS analysis. Genetic counseling is provided post-test to discuss results.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic Test is to identify pathogenic mutations in the SMAD3 gene that cause Loeys-Dietz syndrome type 1C. This test aids in confirming diagnosis, assessing risk for family members, informing treatment decisions, and enabling genetic counseling for affected individuals and their families.
How to Prepare
- Provide blood sample or extracted DNA as specified.
- Ensure proper labeling and handling of the sample.
- No fasting required prior to sample collection.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Loeys-Dietz syndrome is crucial for monitoring and preventing life-threatening cardiovascular complications, especially in patients with a family history or suggestive symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic SMAD3 mutation
Confirms diagnosis of Loeys-Dietz syndrome type 1C. Genetic counseling recommended for family screening and management.
Negative for pathogenic SMAD3 mutation
No mutations detected in the SMAD3 gene. Clinical correlation and further testing may be needed if symptoms persist.
Variant of uncertain significance (VUS)
A genetic variant was found but its clinical significance is unknown. Follow-up testing and consultation with a genetic specialist are advised.
Consult a doctor or genetic counselor if you or a family member exhibit symptoms of Loeys-Dietz syndrome, such as arterial aneurysms, cleft palate, or joint hypermobility, or if there is a known family history of the condition.
Limitations
- ⚠This test may not detect all types of mutations in the SMAD3 gene, such as large deletions or duplications.
- ⚠Results should be interpreted in conjunction with clinical findings and family history.
Risks & Considerations
- ●Minimal physical risk from blood draw (e.g., bruising, discomfort).
- ●Potential psychological impact from test results, addressed through genetic counseling.
Frequently Asked Questions
What is Loeys-Dietz syndrome?
What is the SMAD3 gene?
How is the SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic Test performed?
What are the symptoms of Loeys-Dietz syndrome type 1C?
What is the cost of this genetic test?
Is home sample collection available?
How long does it take to get the results?
What does a positive test result mean?
Is genetic counseling included in the test?
Can this test be used for prenatal diagnosis?
What are the risks of genetic testing?
How should I prepare for the test?
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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
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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