Bohring-Opitz Syndrome (BOS) is a rare genetic disorder that is primarily characterized by severe developmental delays, distinctive facial features, and various physical abnormalities. The syndrome is caused by mutations in the ASXL1 gene, which plays a crucial role in the regulation of gene expression. Recognizing the symptoms of Bohring-Opitz Syndrome is essential for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for Bohring-Opitz Syndrome, aimed at detecting mutations in the ASXL1 gene.
Symptoms of Bohring-Opitz Syndrome
Bohring-Opitz Syndrome presents a wide range of symptoms, which can vary significantly among affected individuals. Some of the most common symptoms include:
- Severe developmental delay and intellectual disability
- Failure to thrive in infancy
- Distinctive facial features such as a prominent forehead, widely spaced eyes, and a small jaw
- Feeding difficulties due to problems with swallowing
- Growth abnormalities including short stature and failure to gain weight
- Increased risk of respiratory infections
- Seizures
- Abnormal posture, characterized by flexed arms and extended legs (the “BOS posture”)
- Eye abnormalities such as crossed eyes (strabismus) or eyes that do not align properly
- Heart defects
It is important to note that the presence and severity of these symptoms can vary widely among individuals with Bohring-Opitz Syndrome. Early diagnosis and intervention are crucial for managing the symptoms and improving the quality of life for affected individuals.
ASXL1 Gene Bohring-Opitz Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for Bohring-Opitz Syndrome, focusing on detecting mutations in the ASXL1 gene. This test is crucial for confirming the diagnosis of Bohring-Opitz Syndrome and can provide valuable information for family planning and management of the disorder. The test is performed using a blood sample, and the process is straightforward and minimally invasive.
Test Cost
The cost of the ASXL1 Gene Bohring-Opitz Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the test procedure, analysis, and a comprehensive report detailing the findings. The report can provide insights into the specific mutation present in the ASXL1 gene, which can be useful for understanding the prognosis and planning appropriate interventions.
Conclusion
Bohring-Opitz Syndrome is a rare genetic disorder that poses significant challenges for affected individuals and their families. Early recognition of the symptoms and a confirmed diagnosis through genetic testing can play a critical role in managing the disorder effectively. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the ASXL1 Gene Bohring-Opitz Syndrome Genetic Test, to help families navigate the complexities of this condition. For more information or to schedule a test, please visit our website.
