Short Description

NGS genetic DNA test detecets for variant and mutation detection in ENG gene for Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1

PreTest Information

Clinical History of Patient who is going for ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 NGS Genetic DNA Test gene ENG

Detail Description

ENG Gene Telangiectasia: Hereditary Hemorrhagic of Rendu, Osler and Weber Type 1

ENG Gene Telangiectasia, also known as Hereditary Hemorrhagic of Rendu, Osler and Weber Type 1, is a rare genetic disorder that affects blood vessels. It is caused by a mutation in the ENG gene, which provides instructions for making a protein called endoglin. This protein helps regulate the growth and development of blood vessels.

People with ENG Gene Telangiectasia can develop abnormal blood vessels, called telangiectasias, in various parts of their body, such as the skin, mucous membranes, and internal organs. These blood vessels are fragile and can rupture, causing bleeding and other complications.

Symptoms of ENG Gene Telangiectasia

The symptoms of ENG Gene Telangiectasia can vary widely, depending on the location and severity of the telangiectasias. Some common symptoms include:

• Nosebleeds
• Red or purple spots on the skin
• Swollen or painful joints
• Shortness of breath
• Chest pain
• Fatigue
• Headaches
• Stroke

Some people with ENG Gene Telangiectasia may not have any symptoms at all.

Diagnosing ENG Gene Telangiectasia

ENG Gene Telangiectasia is typically diagnosed through a combination of clinical evaluation, medical history, and genetic testing. A doctor may perform a physical exam to look for signs of telangiectasias and order imaging tests, such as a CT scan or MRI, to evaluate the extent of the blood vessel abnormalities. Genetic testing can confirm the presence of a mutation in the ENG gene.

NGS Genetic DNA Test for ENG Gene Telangiectasia

NGS Genetic DNA testing is a powerful tool for diagnosing ENG Gene Telangiectasia. This test can detect mutations in the ENG gene with a high degree of accuracy, making it an effective way to confirm a diagnosis. The cost of the NGS Genetic DNA Test for ENG Gene Telangiectasia is INR 20,000.

Treatment for ENG Gene Telangiectasia

There is currently no cure for ENG Gene Telangiectasia, but treatment can help manage symptoms and prevent complications. Treatment options may include:

• Medications to reduce bleeding and prevent blood clots
• Embolization, a procedure to block or reduce blood flow to telangiectasias
• Surgery to remove problematic telangiectasias

It is important for people with ENG Gene Telangiectasia to work closely with a medical team to develop a personalized treatment plan that addresses their specific symptoms and needs.

Conclusion

ENG Gene Telangiectasia is a rare genetic disorder that can cause a wide range of symptoms, from nosebleeds to stroke. Genetic testing, such as the NGS Genetic DNA Test, can be a valuable tool for diagnosing this condition and developing an effective treatment plan. If you or a loved one is experiencing symptoms of ENG Gene Telangiectasia, it is important to seek medical attention promptly.

At DNA Labs India, we offer a range of genetic testing services, including the NGS Genetic DNA Test for ENG Gene Telangiectasia. Contact us today to learn more.