Symptoms of TFAP2B Gene Char Syndrome Genetic Test
Char Syndrome is a rare genetic disorder that is characterized by a set of unique symptoms. This condition is caused by mutations in the TFAP2B gene, which plays a crucial role in the development of various tissues in the body. Understanding the symptoms of Char Syndrome is essential for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for Char Syndrome, aimed at detecting mutations in the TFAP2B gene. This test is a valuable tool for individuals who have a family history of the disorder or exhibit symptoms associated with Char Syndrome.
Key Symptoms of Char Syndrome
Char Syndrome is associated with a distinct set of symptoms that can vary in severity among affected individuals. These symptoms include:
- Patent Ductus Arteriosus (PDA): This is a heart defect that occurs when the ductus arteriosus fails to close after birth, leading to abnormal blood flow between the aorta and pulmonary artery.
- Facial Dysmorphism: Individuals with Char Syndrome often exhibit unique facial features such as a flat nasal bridge, small mouth, and wide-set eyes. These features are noticeable from birth and remain consistent throughout the individual’s life.
- Hand Anomalies: Another hallmark of Char Syndrome is the presence of hand anomalies, including short fingers, clinodactyly (curved finger), and single palmar creases.
These symptoms are indicative of Char Syndrome, but they can also overlap with other genetic conditions. Therefore, a genetic test specifically targeting the TFAP2B gene is crucial for an accurate diagnosis.
TFAP2B Gene Char Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for Char Syndrome, focusing on the TFAP2B gene. This test is designed to identify mutations that are responsible for the condition, providing essential information for diagnosis and management. The process involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in our state-of-the-art laboratory.
The cost of the TFAP2B Gene Char Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of an accurate diagnosis cannot be overstated. An early and precise diagnosis can lead to better management of the condition, including tailored medical care and interventions that can significantly improve the quality of life for those affected by Char Syndrome.
For more information about the TFAP2B Gene Char Syndrome Genetic Test and to schedule an appointment, please visit our website.
Conclusion
Char Syndrome is a rare genetic disorder that requires careful diagnosis and management. The TFAP2B Gene Char Syndrome Genetic Test offered by DNA Labs UAE is a critical tool in identifying the condition, enabling affected individuals and their families to take informed steps towards managing the syndrome. With the symptoms of Char Syndrome being quite distinct, understanding and recognizing these signs can prompt timely genetic testing. If you or a loved one are showing symptoms of Char Syndrome or have a family history of the condition, consider reaching out to DNA Labs UAE for a consultation.
