Symptoms of MGP Gene Keutel Syndrome Genetic Test
Keutel Syndrome is a rare genetic disorder, primarily characterized by abnormal calcification (the buildup of calcium in body tissue, causing it to harden) of cartilage, peripheral pulmonary stenosis, hearing loss, and brachytelephalangy (abnormal shortness of the bones in the toes and fingers). This condition is caused by mutations in the MGP gene, which plays a crucial role in regulating the body’s calcium and preventing inappropriate calcification. Identifying the symptoms early on can lead to a more effective management of the condition. DNA Labs UAE offers a comprehensive genetic test for Keutel Syndrome to help in diagnosing this condition.
Key Symptoms and Features
The symptoms of Keutel Syndrome can vary from person to person but typically include:
- Peripheral Pulmonary Stenosis: A narrowing of the pulmonary arteries that can lead to breathing difficulties and heart issues.
- Abnormal Cartilage Calcification: This can occur in various parts of the body, including the trachea, larynx, and nose, leading to respiratory issues and distinctive facial features.
- Hearing Loss: Progressive loss of hearing due to the calcification of tissues in the middle ear.
- Brachytelephalangy: Shortening of the bones in the fingers and toes, which may affect hand and foot shape and function.
Other possible symptoms include nasal symptoms due to the calcification of the nasal cartilage, dental anomalies, and mild intellectual disability, although the latter is not always present.
Importance of Genetic Testing for Keutel Syndrome
Genetic testing plays a pivotal role in the diagnosis of Keutel Syndrome. By identifying mutations in the MGP gene, clinicians can confirm the diagnosis, which is crucial for the management and treatment of the condition. Early diagnosis through genetic testing can also aid in monitoring and potentially preventing some of the complications associated with Keutel Syndrome. Families with a history of the condition can also benefit from genetic counseling and testing when planning for children.
Test Cost and Procedure
The MGP Gene Keutel Syndrome Genetic Test at DNA Labs UAE is priced at 4400 AED. The test involves a simple blood draw from the arm, which is then analyzed in our state-of-the-art laboratory. Our team of genetic specialists and counselors is available to guide patients through the testing process and interpret the results. The test is designed to be comprehensive and sensitive, ensuring accurate diagnosis for affected individuals and their families.
Conclusion
Keutel Syndrome is a rare but impactful genetic disorder that requires careful management and monitoring. Recognizing the symptoms early and opting for genetic testing can significantly improve the quality of life for those affected. DNA Labs UAE is committed to providing accurate, sensitive, and comprehensive genetic testing services, including the MGP Gene Keutel Syndrome Genetic Test. For more information and to schedule a test, please visit our website at https://dnalabsuae.com/tests/mgp-gene-keutel-syndrome-genetic-test/.
