Short Description

NGS genetic DNA test detecets for variant and mutation detection in BMPR2 gene for Pulmonary venoocclusive disease type 1

PreTest Information

Clinical History of Patient who is going for BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BMPR2 Gene Pulmonary venoocclusive disease type 1 NGS Genetic DNA Test gene BMPR2

Detail Description

BMPR2 Gene Pulmonary Venoocclusive Disease Type 1 NGS Genetic DNA Test

BMPR2 gene pulmonary venoocclusive disease type 1 is a rare genetic disorder that affects the blood vessels in the lungs. This disease is caused by mutations in the BMPR2 gene, which encodes a protein that plays a role in the growth and maintenance of blood vessels. Individuals with BMPR2 gene mutations are at an increased risk of developing pulmonary arterial hypertension (PAH), a condition characterized by high blood pressure in the arteries that supply blood to the lungs.

Symptoms of BMPR2 gene pulmonary venoocclusive disease type 1 may include shortness of breath, fatigue, chest pain, and fainting. These symptoms may be similar to those of other lung and heart conditions, making diagnosis challenging. However, a genetic test can help confirm a diagnosis of BMPR2 gene pulmonary venoocclusive disease type 1.

The BMPR2 gene pulmonary venoocclusive disease type 1 NGS genetic DNA test is a specialized genetic test that can detect mutations in the BMPR2 gene. This test uses next-generation sequencing (NGS) technology to analyze a person's DNA and identify any changes in the BMPR2 gene that may be causing the disease.

Diagnosis

The diagnosis of BMPR2 gene pulmonary venoocclusive disease type 1 is often difficult and may involve several tests. A genetic test is usually performed to confirm the presence of a BMPR2 gene mutation. Other tests that may be performed include:

• Chest X-ray
• Pulmonary function tests
• Right heart catheterization
• Echocardiogram
• Computed tomography (CT) scan

Cost of the Test

The cost of the BMPR2 gene pulmonary venoocclusive disease type 1 NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory and location where the test is performed.

Conclusion

BMPR2 gene pulmonary venoocclusive disease type 1 is a rare genetic disorder that affects the blood vessels in the lungs. Symptoms of this disease may be similar to those of other lung and heart conditions, making diagnosis challenging. However, a genetic test can help confirm a diagnosis of BMPR2 gene pulmonary venoocclusive disease type 1. The BMPR2 gene pulmonary venoocclusive disease type 1 NGS genetic DNA test is a specialized genetic test that can detect mutations in the BMPR2 gene. The cost of this test in India is approximately INR 20,000.

If you suspect that you or a loved one may have BMPR2 gene pulmonary venoocclusive disease type 1, it is important to speak with a healthcare provider and undergo testing as soon as possible. Early diagnosis and treatment can help improve outcomes and quality of life.

Contact DNA Labs India today to schedule your BMPR2 gene pulmonary venoocclusive disease type 1 NGS genetic DNA test.