At DNA Labs UAE, we understand the importance of accurate genetic testing for identifying various syndromes and conditions that can impact individuals and families. One such condition is Jawad Syndrome, which is associated with mutations in the RBBP8 gene. This article aims to provide comprehensive information on the symptoms of Jawad Syndrome and details about the genetic test available at DNA Labs UAE.
Understanding Jawad Syndrome
Jawad Syndrome is a rare genetic disorder that can affect multiple parts of the body, including the development of the craniofacial region, heart, and limbs. The condition is primarily caused by mutations in the RBBP8 gene, which plays a crucial role in DNA repair and cell cycle control. Understanding the symptoms of Jawad Syndrome is essential for early diagnosis and management of the condition.
Symptoms of Jawad Syndrome
The symptoms of Jawad Syndrome can vary significantly among affected individuals but typically include a combination of craniofacial, cardiac, and limb abnormalities. Some of the most common symptoms include:
- Cleft lip and palate: This is a condition where there is an opening or split in the upper lip and/or the roof of the mouth (palate).
- Micrognathia: A condition characterized by a smaller than normal jaw.
- Heart defects: Congenital heart defects are common in individuals with Jawad Syndrome.
- Limb abnormalities: This can include missing or underdeveloped fingers or toes.
- Intellectual disability: Some individuals may experience varying degrees of intellectual disability or developmental delays.
- Eye abnormalities: These can range from minor anomalies to more significant conditions that can affect vision.
It is important to note that the presence and severity of these symptoms can vary widely among individuals with Jawad Syndrome.
RBBP8 Gene Jawad Syndrome Genetic Test at DNA Labs UAE
To facilitate the diagnosis of Jawad Syndrome, DNA Labs UAE offers a comprehensive genetic test that targets the RBBP8 gene. This test is designed to identify mutations in the RBBP8 gene that are associated with the condition. The genetic test is a crucial step in confirming the diagnosis of Jawad Syndrome and can provide valuable information for managing the condition.
The cost of the RBBP8 Gene Jawad Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the genetic testing process, analysis, and a detailed report of the findings. For more information about the test and to schedule an appointment, please visit our website at https://dnalabsuae.com/tests/rbbp8-gene-jawad-syndrome-genetic-test/.
Conclusion
Jawad Syndrome is a complex condition that requires comprehensive genetic testing for accurate diagnosis. The RBBP8 Gene Jawad Syndrome Genetic Test offered by DNA Labs UAE is a valuable tool for individuals and families seeking answers about this rare condition. By understanding the symptoms and availing of the genetic test, affected individuals can take significant steps towards managing the condition and improving their quality of life.
