In the realm of genetic testing and diagnosis, understanding specific syndromes and their underlying genetic causes is crucial for providing targeted and effective healthcare. One such condition, Spondylocarpotarsal Synostosis Syndrome (SCTS), has garnered attention due to its impact on individuals’ skeletal development. This syndrome is primarily associated with mutations in the FLNB gene, and identifying these mutations is essential for a definitive diagnosis. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at providing families and healthcare providers with the necessary information to manage and treat affected individuals effectively.
Symptoms of Spondylocarpotarsal Synostosis Syndrome
Spondylocarpotarsal Synostosis Syndrome is a rare genetic disorder that affects the development of the spine, carpal bones in the wrists, and tarsal bones in the ankles. Individuals with this condition often exhibit a range of symptoms, including:
- Vertebral fusion: Abnormal fusion of the vertebrae in the spine, leading to reduced flexibility and potential for a hunched posture.
- Short stature: Affected individuals may have a shorter height compared to their peers, resulting from the abnormal development of the spine and limbs.
- Foot deformities: Common foot issues include flat feet or clubfoot, which can affect mobility and require corrective treatment.
- Limited joint mobility: The abnormal fusion of bones can lead to reduced mobility in joints such as the elbows, hips, and knees.
- Mild scoliosis: Some individuals may develop a mild form of scoliosis, characterized by a sideways curvature of the spine.
Recognizing these symptoms early can lead to timely genetic testing and diagnosis, which is critical for managing the condition effectively.
FLNB Gene Spondylocarpotarsal Synostosis Syndrome Genetic Test
At DNA Labs UAE, we offer a specialized genetic test designed to identify mutations in the FLNB gene associated with Spondylocarpotarsal Synostosis Syndrome. This test is a crucial step in confirming the diagnosis, enabling healthcare providers to develop a comprehensive management plan tailored to the individual’s needs. The test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in our state-of-the-art laboratory.
Test Cost
The cost of the FLNB gene Spondylocarpotarsal Synostosis Syndrome genetic test at DNA Labs UAE is 4400 AED. While the price may seem significant, it is a valuable investment in accurately diagnosing and managing this condition. Early diagnosis can lead to interventions that improve quality of life and reduce the risk of complications associated with SCTS.
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 staffed by experienced geneticists and technicians, ensuring the highest accuracy and reliability of test results. We understand the importance of timely and accurate diagnosis, which is why we strive to provide fast turnaround times and comprehensive support throughout the testing process.
For more information on the FLNB gene Spondylocarpotarsal Synostosis Syndrome genetic test, including how to order and prepare for the test, please visit our website at https://dnalabsuae.com/tests/flnb-gene-spondylocarpotarsal-synostosis-syndrome-genetic-test/.
Understanding the genetic basis of conditions like Spondylocarpotarsal Synostosis Syndrome is a critical step towards providing effective care and support for affected individuals and their families. With the right information and resources, it is possible to manage this condition and improve the quality of life for those diagnosed. DNA Labs UAE is committed to providing this essential service, ensuring that families have access to the best genetic testing and diagnostic services available.