Auriculocondylar Syndrome Type 2 (ACS2) is a rare genetic disorder that affects the development of the ear, mandible (jawbone), and in some cases, the heart. This condition is primarily caused by mutations in the PLCB4 gene, which plays a crucial role in the development of these structures. Recognizing the symptoms of ACS2 is vital for early diagnosis and intervention, which can significantly improve the quality of life for those affected. At DNA Labs UAE, we offer a comprehensive genetic test for ACS2, allowing for precise diagnosis and tailored management strategies for affected individuals and their families.
Symptoms of Auriculocondylar Syndrome Type 2
Understanding the symptoms of Auriculocondylar Syndrome Type 2 is crucial for early detection and management. The symptoms can vary widely among individuals but commonly include:
- Characteristic facial features such as micrognathia (a small jaw), macrostomia (an unusually wide mouth), and a prominent chin.
- Malformation of the ears, which may be small, unusually shaped, or even absent in some cases.
- Conductive hearing loss due to malformations of the middle ear.
- Issues with the temporomandibular joint (TMJ) leading to difficulties with jaw movement and alignment.
- Glossoptosis, a condition where the tongue is positioned further back than normal, which can lead to breathing and feeding difficulties.
- Heart defects in some individuals, which can affect the overall health and development.
It’s important to note that the severity and combination of these symptoms can vary, making a genetic test crucial for a definitive diagnosis.
PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test at DNA Labs UAE
At DNA Labs UAE, we offer a specialized genetic test for the PLCB4 Gene Auriculocondylar Syndrome Type 2. This test is designed to detect mutations in the PLCB4 gene, confirming the diagnosis of ACS2 and enabling personalized management plans. The test is conducted with the highest standards of accuracy and confidentiality, ensuring peace of mind for families seeking answers.
Test Cost
The cost of the PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the test itself, comprehensive counseling by our genetic experts, and a detailed report of the findings. Our team is committed to supporting families throughout the testing process, providing guidance and resources to navigate the challenges of ACS2.
Conclusion
Auriculocondylar Syndrome Type 2 is a complex condition that requires early diagnosis for effective management. The symptoms of ACS2 can significantly impact the quality of life, making awareness and genetic testing essential. At DNA Labs UAE, we are dedicated to providing advanced genetic testing services, including the PLCB4 Gene Auriculocondylar Syndrome Type 2 Genetic Test, to help families find the answers they need. For more information or to schedule a test, please visit our website at DNA Labs UAE.
