Understanding CANT1 Gene Desbuquois Dysplasia Type 1
Desbuquois Dysplasia is a rare genetic disorder that affects bone development in individuals. It is primarily caused by mutations in the CANT1 gene. This condition is characterized by a variety of symptoms that can significantly impact the quality of life of those affected. Recognizing the symptoms early on can lead to timely genetic testing and management of the condition. DNA Labs UAE offers a comprehensive genetic test for Desbuquois Dysplasia Type 1, aimed at providing accurate diagnosis and facilitating better clinical outcomes.
Symptoms of CANT1 Gene Desbuquois Dysplasia Type 1
The symptoms associated with Desbuquois Dysplasia Type 1 due to mutations in the CANT1 gene can vary widely among individuals. However, some common symptoms include:
- Short stature and growth delays
- Characteristic facial features such as a flat face, wide-set eyes, and a small nose with a flat bridge
- Hand abnormalities including the presence of extra fingers or unusually formed fingers
- Joint laxity and an increased range of motion in the joints
- Spinal abnormalities such as scoliosis
- Foot deformities like clubfoot
- Developmental delays in some cases
It is important to note that the severity and combination of symptoms can vary. Some individuals may have mild symptoms, while others may experience more severe manifestations of the disorder.
Genetic Testing for Desbuquois Dysplasia Type 1
Genetic testing plays a crucial role in the diagnosis of Desbuquois Dysplasia Type 1. By analyzing the CANT1 gene, specialists can identify mutations that cause the disorder. DNA Labs UAE offers a specialized genetic test for this condition, providing a reliable diagnosis for affected individuals and their families. This test not only confirms the presence of the disorder but also aids in the management and treatment planning.
Test Cost and Process
The cost of the CANT1 Gene Desbuquois Dysplasia Type 1 Genetic Test at DNA Labs UAE is 4400 AED. The testing process involves a simple blood draw or saliva sample from the individual. Once the sample is collected, it is analyzed in the lab for mutations in the CANT1 gene. Results are typically available within a few weeks, after which a genetic counselor can help interpret the findings and guide the next steps.
Conclusion
Understanding the symptoms of Desbuquois Dysplasia Type 1 and undergoing genetic testing if these symptoms are present is crucial for early diagnosis and management. DNA Labs UAE is committed to providing accurate and timely genetic testing services to help individuals and families affected by this condition. For more information or to schedule a test, visit our website.
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