Arthrogryposis Distal Type 1A is a rare genetic disorder that affects the development and flexibility of joints, leading to limited movement and, in many cases, congenital contractures. This condition is specifically associated with mutations in the TPM2 gene, which plays a crucial role in muscle contraction and development. Understanding the symptoms of this disorder is essential for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, which is crucial for families seeking answers about this rare genetic disorder.
Symptoms of TPM2 Gene Arthrogryposis Distal Type 1A
The symptoms of Arthrogryposis Distal Type 1A can vary significantly from one individual to another but generally revolve around the stiffness and impaired movement of joints. Some of the common symptoms include:
- Limited range of motion in affected joints, particularly in the hands, feet, elbows, and knees.
- Presence of contractures (permanent fixation of a joint in a bent or straightened position) at birth.
- Reduced muscle mass around affected joints.
- Difficulties with tasks that require fine motor skills.
- Possible involvement of the hips and shoulders, although this is less common.
Early detection and intervention are critical for managing the symptoms effectively and improving the quality of life for those affected by this condition.
Genetic Testing for Arthrogryposis Distal Type 1A
Genetic testing plays a pivotal role in diagnosing Arthrogryposis Distal Type 1A, particularly for families with a history of the condition or when the disorder is suspected due to prenatal ultrasound findings. DNA Labs UAE offers a specialized genetic test that targets the TPM2 gene to confirm the diagnosis of Arthrogryposis Distal Type 1A. This test is not only crucial for diagnosis but also for guiding treatment decisions and for understanding the risk of recurrence in future pregnancies.
Test Cost and Procedure
The cost of the TPM2 Gene Arthrogryposis Distal Type 1A Genetic Test at DNA Labs UAE is 4400 AED. The test involves collecting a small sample of blood or saliva, which is then analyzed in our advanced genetic testing laboratory. Our team of genetic experts uses the latest technologies to detect mutations in the TPM2 gene that are associated with Arthrogryposis Distal Type 1A. The process is straightforward and non-invasive, making it suitable for individuals of all ages, including newborns.
Why Choose DNA Labs UAE?
Choosing DNA Labs UAE for your genetic testing needs ensures that you receive accurate and reliable results. Our laboratory is equipped with state-of-the-art technology, and our team comprises highly skilled genetic professionals dedicated to providing comprehensive support throughout the testing process. We understand the importance of timely and precise diagnosis, which is why we are committed to delivering results promptly. For more information about the TPM2 Gene Arthrogryposis Distal Type 1A Genetic Test, please visit our website at https://dnalabsuae.com/tests/tpm2-gene-arthrogryposis-distal-type-1a-genetic-test/.
In conclusion, understanding the symptoms of Arthrogryposis Distal Type 1A and the importance of genetic testing cannot be overstated. With advancements in genetic testing, families affected by this condition now have access to crucial information that can aid in managing the disorder more effectively. DNA Labs UAE is at the forefront of providing these essential services, ensuring that families receive the support and answers they need.
