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SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic Test

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SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic Test

Short Name: SMAD4 Gene JPS/HHT NGS Test

Also known as: JPS/HHT Syndrome, SMAD4 Mutation Test, Juvenile Polyposis-HHT Syndrome

SMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.

NGS Genetic Test🏠 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

To diagnose individuals at risk for Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome by detecting mutations in the SMAD4 gene, enabling early intervention and family screening.

Test Code
2883
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Genetic counseling session to assess clinical history and draw a pedigree chart of affected family members. Provide informed consent.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or one drop blood collected on FTA card. Minimal discomfort expected.

Step 3

Report Delivery

Sample labeled and transported to the laboratory for NGS analysis. Follow-up with healthcare provider for result interpretation.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment to determine test appropriateness.
2
During the Test:Blood sample collection or DNA extraction from provided sample.
3
After the Test:Laboratory analysis using NGS technology, followed by report generation and genetic counseling for result interpretation.

About This Test

Who Should Get This Test

To diagnose individuals at risk for Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome by detecting mutations in the SMAD4 gene, enabling early intervention and family screening.

How to Prepare

  • Use sterile equipment for blood collection
  • Store FTA card at room temperature if used
  • Ensure proper labeling with patient details

Doctor's Notes

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

"Genetic testing for SMAD4 mutations is crucial for early diagnosis and management of JPS/HHT syndrome, especially in families with a history of polyps or telangiectasias, to guide surveillance and reduce cancer risk."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per test requirements
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples: refrigerate at 2-8°C for up to 48 hours
FTA card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the SMAD4 gene. Positive results suggest increased risk for JPS/HHT syndrome, while negative results may require clinical correlation.
Positive for pathogenic variant: Confirms diagnosis, recommend surveillance and family testing
Negative: No mutation detected, but clinical symptoms may warrant further evaluation
Variant of uncertain significance: Requires additional studies and genetic counseling
Inconclusive: Repeat testing or alternative methods may be needed
⚠️ When to Consult a Doctor:

If you experience symptoms like rectal bleeding, nosebleeds, or have a family history of JPS/HHT, consult a geneticist, gastroenterologist, or oncologist for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants or epigenetic changes
  • ⚠Results require correlation with clinical findings and genetic counseling
  • ⚠Cannot predict disease severity or onset with certainty

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Psychological impact of genetic results, requiring counseling
  • ●Potential for incidental findings unrelated to JPS/HHT

Interfering Factors

  • ●Sample degradation or contamination
  • ●Insufficient DNA quantity or quality
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestSMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic TestBMPR1A Gene TestPTEN Gene TestComprehensive Cancer PanelHereditary Hemorrhagic Telangiectasia Panel
ComparisonSMAD4 Gene Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NGS Genetic Test

Frequently Asked Questions

What is the SMAD4 Gene Juvenile Polyposis/HHT Syndrome NGS Genetic Test?
It is a Next-Generation Sequencing test that analyzes the SMAD4 gene for mutations associated with Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome, a rare genetic condition affecting the digestive system and blood vessels.
What are the symptoms of Juvenile Polyposis/HHT Syndrome?
Symptoms include rectal bleeding, nosebleeds, abdominal pain, anemia, shortness of breath, and fatigue due to polyps in the digestive tract and telangiectasias in various organs.
Who should consider this genetic test?
Individuals with a family history of JPS/HHT, symptoms like rectal bleeding or nosebleeds, or those diagnosed with multiple juvenile polyps should consider testing.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed using NGS technology to sequence the SMAD4 gene for mutations.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, which includes test kit, sample collection, and analysis.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in 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 if pathogenic variants are detected in the SMAD4 gene. Positive results suggest increased risk for JPS/HHT syndrome, while negative results may require clinical correlation.
Is genetic counseling recommended?
Yes, genetic counseling before and after testing is recommended to understand the implications, interpret results, and discuss family screening.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw, but psychological impact of results may require counseling.
Can this test diagnose other conditions?
The test specifically targets SMAD4 gene mutations linked to JPS/HHT syndrome, but variants may have implications for other conditions like pancreatic cancer.
How do I prepare for the test?
No fasting is required. Provide clinical history and undergo genetic counseling. Ensure proper sample collection as per instructions.
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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