Antley-Bixler Syndrome, a rare genetic disorder, is characterized by numerous skeletal abnormalities that are often present at birth. This condition is primarily associated with mutations in the FGFR2 gene, which plays a crucial role in early bone development and growth. Recognizing the symptoms early can be vital for managing the condition effectively. DNA Labs UAE offers a comprehensive genetic test for Antley-Bixler Syndrome, aimed at detecting mutations in the FGFR2 gene.
Symptoms of Antley-Bixler Syndrome
Antley-Bixler Syndrome manifests through a variety of symptoms, most of which are related to skeletal malformations. Key symptoms include craniosynostosis, where the skull bones fuse prematurely, leading to an abnormal head shape and potential brain development issues. Patients may also exhibit midface hypoplasia, presenting as underdeveloped facial bones. This can cause respiratory difficulties and affect the appearance of the eyes, nose, and jaw.
Other skeletal abnormalities include radiohumeral synostosis, where the elbow joints are fused, limiting arm movement. Patients might also have long, bowed femurs, or thigh bones, and arched, or “clubbed,” feet. In some cases, individuals with Antley-Bixler Syndrome may have issues with their urogenital system, which can affect kidney function and sexual development.
Beyond the physical symptoms, individuals with Antley-Bixler Syndrome may encounter developmental delays and hearing loss. It is important to note that the severity and combination of symptoms can vary significantly from one person to another.
FGFR2 Gene Antley-Bixler Syndrome Genetic Test
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the FGFR2 gene associated with Antley-Bixler Syndrome. This test is crucial for accurate diagnosis, enabling early intervention and management of the condition. The process involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in our state-of-the-art laboratory.
Understanding whether an individual carries a mutation in the FGFR2 gene can provide valuable information for families. It can help in making informed decisions about future family planning and offer insights into the potential need for specialized care and treatment for affected individuals.
Test Cost
The cost of the FGFR2 Gene Antley-Bixler Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a comprehensive report of the findings. Our team of genetic counselors is also available to discuss the results and provide guidance on the next steps.
Why Choose DNA Labs UAE?
DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. Our laboratory is equipped with the latest technology, and our team comprises highly qualified geneticists and counselors. We are committed to delivering accurate, reliable results and providing support and guidance to our clients throughout the testing process.
For more information about the FGFR2 Gene Antley-Bixler Syndrome Genetic Test and to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/fgfr2-gene-antley-bixler-syndrome-genetic-test/.
Understanding your genetic health is crucial for managing conditions like Antley-Bixler Syndrome. With DNA Labs UAE, you can rest assured that you’re getting top-quality genetic testing services that can help guide you towards better health management and decision-making for your family’s future.
