Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFBR1 gene for Aortic aneurysm, familial thoracic type 5

PreTest Information

Clinical History of Patient who is going for TGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFBR1 Gene Aortic aneurysm, familial thoracic type 5 NGS Genetic DNA Test gene TGFBR1

Detail Description

TGFBR1 Gene Aortic Aneurysm, Familial Thoracic Type 5 NGS Genetic DNA Test

Aortic Aneurysm is a serious medical condition that affects the aorta, the main blood vessel that carries oxygen-rich blood from the heart to the rest of the body. When the wall of the aorta weakens, it can bulge out or balloon, causing an aneurysm. If left untreated, an aortic aneurysm can rupture, leading to life-threatening internal bleeding.

One of the genetic factors that can cause an aortic aneurysm is a mutation in the TGFBR1 gene. This gene provides instructions for making a protein that helps regulate cell growth and division. When this gene is mutated, it can lead to the development of familial thoracic aortic aneurysm, which is a type of aortic aneurysm that runs in families.

Symptoms of Familial Thoracic Aortic Aneurysm

Familial Thoracic Aortic Aneurysm (FTAA) often does not have any symptoms until the aneurysm becomes large enough to cause problems. Some of the symptoms that may occur include:

• Chest pain
• Back pain
• Shortness of breath
• Hoarseness
• Coughing up blood

If you have a family history of FTAA or have any of the symptoms listed above, it is important to see a doctor for a proper diagnosis.

Diagnosis of Familial Thoracic Aortic Aneurysm

Diagnosis of FTAA typically involves a physical exam, imaging tests, and genetic testing. The physical exam may include listening to your heart and lungs, checking your blood pressure, and feeling for any abnormalities in your abdomen.

Imaging tests such as ultrasound, CT scan, or MRI can help your doctor see the size and location of the aneurysm. Genetic testing can identify if you have a mutation in the TGFBR1 gene that is causing the aneurysm.

NGS Genetic DNA Test

The NGS Genetic DNA Test is a type of genetic testing that uses Next-Generation Sequencing (NGS) technology to analyze multiple genes at once. This test can help identify mutations in the TGFBR1 gene that may be causing familial thoracic aortic aneurysm.

At DNA Labs India, we offer the NGS Genetic DNA Test for TGFBR1 Gene Aortic Aneurysm, Familial Thoracic Type 5 at a cost of INR 20,000. This test can help provide a definitive diagnosis and allow for early intervention and treatment.

Conclusion

Familial Thoracic Aortic Aneurysm is a serious medical condition that can be caused by a mutation in the TGFBR1 gene. If you have a family history of FTAA or any of the symptoms listed above, it is important to see a doctor for a proper diagnosis. The NGS Genetic DNA Test offered by DNA Labs India can help identify mutations in the TGFBR1 gene and provide early intervention and treatment options.

Don't wait until it's too late. Contact DNA Labs India today to schedule your NGS Genetic DNA Test for TGFBR1 Gene Aortic Aneurysm, Familial Thoracic Type 5.