Prune Belly Syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare, genetic disorder characterized by a set of distinctive physical features and symptoms. The syndrome is named for the wrinkled appearance of the abdominal wall, resembling a prune, which is due to the lack of abdominal muscles. Recent advancements in genetics have pinpointed mutations in the CHRM3 gene as a potential cause of this condition. Understanding the symptoms and undergoing genetic testing can be crucial for early diagnosis and management. At DNA Labs UAE, we offer a comprehensive CHRM3 Gene Prune Belly Syndrome Genetic Test, priced at 4400 AED, designed to identify mutations in the CHRM3 gene, aiding in the diagnosis of Prune Belly Syndrome.
Symptoms of Prune Belly Syndrome
Prune Belly Syndrome is characterized by a triad of symptoms, although the severity and presence of these symptoms can vary significantly among individuals. The most common symptoms include:
- Deficiency or absence of abdominal muscles: This is the hallmark feature of PBS, leading to a lax, wrinkled abdominal wall.
- Urinary tract anomalies: Many individuals with PBS have some form of urinary system malformation, which can lead to urinary tract infections and kidney problems.
- Cryptorchidism: A condition in which one or both testicles fail to descend into the scrotum, affecting males with PBS.
Other symptoms may include pulmonary, cardiovascular, and gastrointestinal abnormalities. It’s important to note that the severity of these symptoms can vary widely, and not all individuals will have all the symptoms.
Importance of Genetic Testing for CHRM3 Gene Mutations
Genetic testing plays a pivotal role in the diagnosis of Prune Belly Syndrome, especially for cases where the symptoms may be mild or atypical. Identifying mutations in the CHRM3 gene can confirm the diagnosis, allowing for early intervention and management of the condition. The CHRM3 Gene Prune Belly Syndrome Genetic Test offered by DNA Labs UAE is a valuable tool in this diagnostic process. With a cost of 4400 AED, this test is a critical step for families seeking answers and a clear diagnosis.
What to Expect from the CHRM3 Gene Prune Belly Syndrome Genetic Test
Undergoing genetic testing for Prune Belly Syndrome at DNA Labs UAE is a straightforward process. The test involves collecting a small sample of blood or saliva from the patient. This sample is then analyzed in our state-of-the-art laboratory for mutations in the CHRM3 gene that are associated with the syndrome. The results of this test can provide definitive answers, guiding the next steps in care and management.
Conclusion
Prune Belly Syndrome is a complex condition that can significantly impact the quality of life. Early diagnosis and intervention are crucial for managing the symptoms and preventing complications. The CHRM3 Gene Prune Belly Syndrome Genetic Test is an essential tool in the diagnostic process, offering families the answers they need. At DNA Labs UAE, we are committed to providing accurate, reliable genetic testing services. For more information or to schedule a test, please visit our website.
Contact Information
For further details about the CHRM3 Gene Prune Belly Syndrome Genetic Test and to explore our full range of genetic testing services, visit DNA Labs UAE. Our team of experts is here to support you through the testing process and answer any questions you may have.