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SMAD6 Gene Aortic valve disease type 2 NGS Genetic Test

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SMAD6 Gene Aortic valve disease type 2 NGS Genetic Test

Short Name: SMAD6 Aortic Valve Disease Type 2 Test

Also known as: SMAD6 gene test for aortic valve disease type 2, SMAD6 mutation analysis

SMAD6 Gene Aortic valve disease type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.

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

The purpose of this test is to identify mutations in the SMAD6 gene associated with aortic valve disease type 2, enabling accurate diagnosis, risk assessment, and personalized treatment strategies for patients.

Test Code
2552
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
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Blood draw

Step 2

Laboratory Analysis

A small blood sample or tissue sample is collected via standard phlebotomy or FTA card.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling and provide informed consent.
2
During the Test:Sample collection and processing in the lab using NGS technology.
3
After the Test:Receive results in 3-4 weeks and discuss with a healthcare provider.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the SMAD6 gene associated with aortic valve disease type 2, enabling accurate diagnosis, risk assessment, and personalized treatment strategies for patients.

How to Prepare

  • Ensure proper identification
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

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

"This genetic test is crucial for identifying mutations in the SMAD6 gene, which can help in early diagnosis and personalized treatment of aortic valve disease type 2."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw

Sample Stability

Room temperatureUp to 7 days
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of mutations in the SMAD6 gene. Positive results suggest a genetic cause for aortic valve disease type 2.
📊

Pathogenic variant detected

Confirms genetic basis for aortic valve disease type 2; consider family screening and tailored management.

📊

No pathogenic variant detected

Reduces likelihood of SMAD6-related disease; other causes may be investigated.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms like chest pain, fatigue, or shortness of breath, or if you have a family history of aortic valve disease.

Limitations

  • ⚠Test may not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA

Compare With Similar Tests

TestSMAD6 Gene Aortic valve disease type 2 NGS Genetic TestEchocardiogramECGCardiac MRI
ComparisonSMAD6 Gene Aortic valve disease type 2 NGS Genetic TestImaging test for valve structure; genetic test identifies underlying cause.Assesses electrical activity; genetic test provides molecular diagnosis.Detailed imaging; genetic test offers hereditary insights.

Frequently Asked Questions

What is SMAD6 Gene Aortic Valve Disease Type 2?
It is a rare genetic condition caused by mutations in the SMAD6 gene, leading to abnormal aortic valve formation or function.
What are the symptoms of type 2 aortic valve disease?
Symptoms include chest pain, fatigue, shortness of breath, dizziness, fainting, and heart palpitations.
How is the condition diagnosed?
Diagnosis involves physical exams, medical history, and tests like echocardiograms, ECGs, and genetic testing.
What does the NGS Genetic Test involve?
The test analyzes the SMAD6 gene for mutations using Next Generation Sequencing from a blood or DNA sample.
What is the cost of the test?
The cost at DNA Labs India is INR 20000, including testing, analysis, and interpretation.
Is home sample collection available?
Yes, free home collection is offered across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Can the test be used for family screening?
Yes, results can guide genetic counseling and screening for family members.
What should I do if I test positive?
Consult a healthcare provider for personalized treatment and management plans.
Are raw data files provided with the report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report.
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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