Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFBR2 gene for Aortic aneurysm, familial thoracic type 3

PreTest Information

Clinical History of Patient who is going for TGFBR2 Gene Aortic aneurysm, familial thoracic type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFBR2 Gene Aortic aneurysm, familial thoracic type 3 NGS Genetic DNA Test gene TGFBR2

Detail Description

TGFBR2 Gene Aortic Aneurysm, Familial Thoracic Type 3 NGS Genetic DNA Test

Familial Thoracic Aortic Aneurysm (FTAA) is a genetic disorder that affects the aorta, the largest artery in the body. It is characterized by the weakening and bulging of the aortic wall, which can lead to a life-threatening rupture. FTAA can be caused by mutations in several genes, including the TGFBR2 gene.

The TGFBR2 gene provides instructions for making a protein that is involved in the signaling pathways that regulate cell growth and division. Mutations in this gene can disrupt these pathways, leading to abnormal cell growth and the weakening of the aortic wall.

Symptoms of FTAA

FTAA is often asymptomatic until the aneurysm reaches a critical size or ruptures. Symptoms may include:

• Chest pain
• Back pain
• Shortness of breath
• Fainting

Diagnosis of FTAA

FTAA can be diagnosed through imaging tests such as echocardiography, CT scan, or MRI. Genetic testing can also be used to identify mutations in the TGFBR2 gene.

NGS Genetic DNA Test for TGFBR2 Gene Aortic Aneurysm

NGS (Next Generation Sequencing) Genetic DNA Test is a comprehensive test that analyzes the entire coding region of the TGFBR2 gene. This test can identify mutations that may be associated with FTAA and other related conditions. The NGS Genetic DNA Test for TGFBR2 Gene Aortic Aneurysm is a highly accurate and reliable test that can help in the early detection and diagnosis of FTAA.

Cost of NGS Genetic DNA Test for TGFBR2 Gene Aortic Aneurysm

The cost of the NGS Genetic DNA Test for TGFBR2 Gene Aortic Aneurysm is INR 20,000.

Conclusion

FTAA is a serious genetic disorder that can lead to life-threatening complications. Early detection and diagnosis are essential for effective treatment and management. The NGS Genetic DNA Test for TGFBR2 Gene Aortic Aneurysm is a valuable tool that can help in the diagnosis and management of FTAA. If you suspect that you or a loved one may be at risk for FTAA, talk to your doctor about genetic testing.