In the realm of genetic testing and diagnostics, understanding the nuances of specific conditions is pivotal for both patients and healthcare providers. One such condition that has garnered attention due to its rarity and the complexity of its symptoms is Arthrogryposis Distal Type 5D, associated with mutations in the ECEL1 gene. At DNA Labs UAE, we are committed to providing comprehensive genetic testing services, including the ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test, to aid in the diagnosis and management of this condition.
Understanding Arthrogryposis Distal Type 5D
Arthrogryposis Distal Type 5D is a genetic disorder characterized by the development of contractures in the distal parts of the limbs, which are present at birth. These contractures result from reduced fetal movement during development. The condition is specifically linked to mutations in the ECEL1 gene, which plays a crucial role in the development of the nervous system and muscle formation.
Symptoms of Arthrogryposis Distal Type 5D
The symptoms of Arthrogryposis Distal Type 5D can vary significantly among affected individuals but generally include:
- Contractures of the wrists and ankles, leading to limited movement and flexibility.
- Possible involvement of the elbows, hips, and knees, although this is less common.
- Facial anomalies in some cases, including a small mouth, which may affect feeding and speech.
- Respiratory difficulties due to muscle weakness.
- Feeding difficulties in infancy due to orofacial anomalies.
- Delayed developmental milestones, especially in motor skills, due to limb and joint limitations.
The Importance of Genetic Testing
Genetic testing for Arthrogryposis Distal Type 5D is crucial for several reasons. Firstly, it can provide a definitive diagnosis, distinguishing this type from other forms of arthrogryposis. Secondly, it offers valuable information for genetic counseling, helping families understand the risk of recurrence in future pregnancies. Lastly, an accurate diagnosis can guide management and intervention strategies, optimizing the quality of life for affected individuals.
ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer the ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test for individuals presenting with symptoms of this condition or families with a history of arthrogryposis. The test is performed using a blood sample, with results typically available within a few weeks. Our team of genetic counselors and healthcare professionals is available to guide you through the testing process and interpret the results.
Test Cost
The cost of the ECEL1 Gene Arthrogryposis Distal Type 5D Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the test itself, as well as pre-test and post-test counseling to ensure that you fully understand the implications of the results.
Conclusion
Understanding and managing Arthrogryposis Distal Type 5D requires a comprehensive approach that includes accurate diagnosis and genetic counseling. At DNA Labs UAE, we are dedicated to providing the highest quality genetic testing services to support patients and families affected by this condition. For more information or to schedule a test, please visit our website.
