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BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic Test

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BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic Test

Short Name: BMPR2 PVOD Type 1 NGS Test

Also known as: BMPR2 Mutation Test, PVOD Type 1 Genetic Test, Pulmonary Hypertension Genetic Test

BMPR2 Gene Pulmonary venoocclusive disease type 1 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.

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 detect mutations in the BMPR2 gene associated with Pulmonary Venoocclusive Disease Type 1 and Pulmonary Arterial Hypertension, aiding in diagnosis, risk assessment, and genetic counseling for affected individuals and their families.

Test Code
5349
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
Step 1

Sample Collection

No specific preparation is required. Inform the laboratory about any medications, recent procedures, or blood transfusions. A genetic counseling session is recommended prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques. For FTA card collection, a single drop of blood is applied to the card.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to stop bleeding. Resume normal activities immediately. Store samples as instructed if self-collected.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications, benefits, and limitations of the test. Provide informed consent and discuss family history.
2
During the Test:The test involves a simple blood draw or sample collection. The procedure is quick, with minimal discomfort beyond a needle prick.
3
After the Test:Results will be available in 3-4 weeks. Discuss results with your healthcare provider or genetic counselor for appropriate follow-up and management.

About This Test

Who Should Get This Test

To detect mutations in the BMPR2 gene associated with Pulmonary Venoocclusive Disease Type 1 and Pulmonary Arterial Hypertension, aiding in diagnosis, risk assessment, and genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile collection equipment
  • Follow aseptic techniques to prevent contamination
  • Transport samples to the lab within the specified stability period

Doctor's Notes

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

"This genetic test is essential for identifying hereditary causes of pulmonary hypertension and guiding treatment decisions, especially in families with a history of the disease."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week at 4°C or longer at -20°C
FTA card samples stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples exceeding stability time

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BMPR2 gene. A positive result suggests a genetic predisposition to Pulmonary Venoocclusive Disease Type 1 or Pulmonary Arterial Hypertension, while a negative result indicates no detectable mutations in the analyzed regions.
📊

Positive for pathogenic BMPR2 mutation

Increased risk for developing PVOD type 1 or PAH. Genetic counseling and clinical evaluation recommended for management and family screening.

📊

Negative for pathogenic BMPR2 mutation

No pathogenic variants detected in the BMPR2 gene. Clinical correlation advised as symptoms may be due to other causes. Consider additional testing if clinically indicated.

⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms of pulmonary hypertension, have a family history of the disease, or receive a positive genetic test result for further evaluation, management, and genetic counseling.

Limitations

  • ⚠May not detect all types of BMPR2 mutations or variants of uncertain significance
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may take several weeks due to complex analysis
  • ⚠Does not rule out other genetic or non-genetic causes of pulmonary hypertension

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising, soreness, or rare infection
  • ●Psychological impact of genetic results, including anxiety or stress
  • ●Potential for incidental findings unrelated to the primary condition

Interfering Factors

  • ●Poor sample quality or hemolysis
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions affecting DNA analysis

Compare With Similar Tests

TestBMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic TestEchocardiogramRight Heart CatheterizationPulmonary Function TestsCT Scan of Chest
ComparisonBMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic TestNon-invasive imaging test to assess heart and lung function, but cannot detect genetic mutations like the BMPR2 test.Invasive test to measure pulmonary artery pressure, used for definitive diagnosis of PAH but does not provide genetic information.Assesses lung capacity and function, helpful in evaluating respiratory symptoms but not specific for genetic causes of PVOD.Imaging test to visualize lung structures, may show signs of PVOD but cannot confirm genetic etiology.

Frequently Asked Questions

What is the BMPR2 Gene Pulmonary Venoocclusive Disease Type 1 NGS Genetic Test?
It is a specialized genetic test that uses next-generation sequencing to detect mutations in the BMPR2 gene, which are associated with Pulmonary Venoocclusive Disease Type 1 and Pulmonary Arterial Hypertension.
Why is this test important?
This test helps confirm diagnosis, assess genetic risk, guide treatment decisions, and facilitate family screening for hereditary pulmonary conditions.
Who should consider getting this test?
Individuals with symptoms of pulmonary hypertension, a family history of PAH or PVOD, or those diagnosed with unexplained pulmonary hypertension should consider this test.
How is the test performed?
The test requires a blood sample or extracted DNA, which is analyzed using NGS technology to identify mutations in the BMPR2 gene.
What is the cost of the test in India?
The cost is approximately INR 20,000, which may vary slightly by location. Home sample collection is available at no extra charge.
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?
A positive result indicates a mutation in the BMPR2 gene, increasing risk for PVOD or PAH. A negative result means no pathogenic mutations were detected, but clinical correlation is advised.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising. Genetic results may have psychological implications, so counseling is recommended.
Can this test diagnose other conditions?
The test specifically targets BMPR2 gene mutations related to PVOD and PAH. It may not detect other genetic or non-genetic causes of similar symptoms.
Is genetic counseling required before the test?
While not mandatory, genetic counseling is highly recommended to understand the test's implications, interpret results, and discuss family planning.
How accurate is the test?
The test uses advanced NGS technology with high accuracy for detecting known BMPR2 mutations, but it may not identify all variants. Results should be interpreted in clinical context.
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.

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