SMAD4 Gene Juvenile polyposis syndrome NGS Genetic Test
Short Name: SMAD4 JPS NGS Test
Also known as: JPS Genetic Test, SMAD4 Mutation Analysis, Juvenile Polyposis Syndrome DNA Test
SMAD4 Gene Juvenile polyposis syndrome 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 SMAD4 Gene Juvenile Polyposis Syndrome NGS Genetic Test is to identify mutations in the SMAD4 gene that cause or increase the risk of Juvenile Polyposis Syndrome. This test aids in accurate diagnosis, informs treatment decisions, guides family screening, and helps in assessing cancer risk for early intervention.
- Test Code
- 2889
- 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
No specific preparation is required. Ensure to provide clinical history and genetic counseling information.
Method: Venipuncture or finger prick
Laboratory Analysis
A blood sample will be drawn from a vein in the arm or a finger prick for FTA card collection. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Resume normal activities immediately.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SMAD4 Gene Juvenile Polyposis Syndrome NGS Genetic Test is to identify mutations in the SMAD4 gene that cause or increase the risk of Juvenile Polyposis Syndrome. This test aids in accurate diagnosis, informs treatment decisions, guides family screening, and helps in assessing cancer risk for early intervention.
How to Prepare
- Fast for 8-12 hours if specified, though not required for this test
- Bring identification and test requisition form
- Inform the phlebotomist of any medications or health conditions
- Ensure sample is labeled correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SMAD4 is essential for early detection and management of Juvenile Polyposis Syndrome, especially in families with a history of gastrointestinal polyps or cancer."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type or container
- Unlabeled or mislabeled samples
Understanding Your Results
Positive for SMAD4 mutation
Confirms diagnosis of Juvenile Polyposis Syndrome due to SMAD4 gene defect. Recommend genetic counseling, regular endoscopic surveillance, and cancer risk assessment.
Negative for SMAD4 mutation
No pathogenic variant detected in SMAD4 gene. Consider testing for other genes like BMPR1A if clinical suspicion remains.
Variant of uncertain significance
A genetic variant was found but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a doctor or genetic counselor if you have a family history of JPS, experience symptoms like persistent abdominal pain or rectal bleeding, or receive a positive test result for further management and screening recommendations.
Limitations
- ⚠Only detects mutations in the SMAD4 gene
- ⚠May not identify all genetic causes of Juvenile Polyposis Syndrome
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not replace clinical diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample storage
- ●Recent blood transfusion
Compare With Similar Tests
| Test | SMAD4 Gene Juvenile polyposis syndrome NGS Genetic Test | Sanger Sequencing for SMAD4 | Multi-gene Panel for Polyposis Syndromes |
|---|---|---|---|
| Comparison | SMAD4 Gene Juvenile polyposis syndrome NGS Genetic Test |
Frequently Asked Questions
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