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Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder that affects many parts of the body. Individuals with this condition often have distinctive facial features, broad thumbs and toes, short stature, and moderate to severe intellectual disability. The syndrome is primarily caused by mutations in the CREBBP gene, although mutations in the EP300 gene can also lead to the condition. At DNA Labs UAE, we offer a comprehensive genetic test for the CREBBP gene to help diagnose Rubinstein-Taybi Syndrome, providing families with crucial information for managing and understanding this condition. The cost of the test is 4400 AED.
Symptoms of Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome manifests through a variety of symptoms, affecting individuals differently. Common symptoms include:
- Distinctive facial features such as a broad forehead, highly arched eyebrows, long eyelashes, a beaked nose, and a broad nasal bridge.
- Broad thumbs and broad big toes.
- Short stature, often noticeable after the first year of life.
- Moderate to severe intellectual disability or learning difficulties.
- Increased risk of developing certain types of cancer, particularly leukemia and lymphoma.
- Heart defects, eye abnormalities, and hearing loss.
- Difficulty feeding in infancy, which can lead to growth problems.
It’s important to note that the severity and presence of these symptoms can vary widely among individuals with Rubinstein-Taybi Syndrome. Early diagnosis and intervention can significantly improve the quality of life for those affected.
CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test
At DNA Labs UAE, we offer a genetic test specifically designed to detect mutations in the CREBBP gene associated with Rubinstein-Taybi Syndrome. This test is crucial for confirming the diagnosis, especially in cases where the clinical symptoms are present. Understanding the genetic basis of the syndrome can help in managing the condition more effectively, providing insights into potential health risks, and guiding treatment decisions.
The test is conducted with a simple blood sample, making it minimally invasive. Our state-of-the-art laboratory ensures accurate and reliable results, with confidentiality and professionalism being our top priorities. The cost of the CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test is 4400 AED.
For more information or to schedule a test, please visit our website at DNA Labs UAE.
Conclusion
Rubinstein-Taybi Syndrome is a complex condition that requires a comprehensive approach for diagnosis and management. The CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test offered by DNA Labs UAE is a vital tool in understanding this condition, allowing for better care and support for affected individuals and their families. With the right interventions, individuals with Rubinstein-Taybi Syndrome can lead fulfilling lives. Early diagnosis through genetic testing is key to achieving the best possible outcomes.
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Symptoms of Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome manifests through a variety of symptoms, affecting individuals differently. Common symptoms include:
- Distinctive facial features such as a broad forehead, highly arched eyebrows, long eyelashes, a beaked nose, and a broad nasal bridge.
- Broad thumbs and broad big toes.
- Short stature, often noticeable after the first year of life.
- Moderate to severe intellectual disability or learning difficulties.
- Increased risk of developing certain types of cancer, particularly leukemia and lymphoma.
- Heart defects, eye abnormalities, and hearing loss.
- Difficulty feeding in infancy, which can lead to growth problems.
It’s important to note that the severity and presence of these symptoms can vary widely among individuals with Rubinstein-Taybi Syndrome. Early diagnosis and intervention can significantly improve the quality of life for those affected.
CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test
At DNA Labs UAE, we offer a genetic test specifically designed to detect mutations in the CREBBP gene associated with Rubinstein-Taybi Syndrome. This test is crucial for confirming the diagnosis, especially in cases where the clinical symptoms are present. Understanding the genetic basis of the syndrome can help in managing the condition more effectively, providing insights into potential health risks, and guiding treatment decisions.
The test is conducted with a simple blood sample, making it minimally invasive. Our state-of-the-art laboratory ensures accurate and reliable results, with confidentiality and professionalism being our top priorities. The cost of the CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test is 4400 AED.
For more information or to schedule a test, please visit our website at DNA Labs UAE.
Conclusion
Rubinstein-Taybi Syndrome is a complex condition that requires a comprehensive approach for diagnosis and management. The CREBBP Gene Rubinstein-Taybi Syndrome Genetic Test offered by DNA Labs UAE is a vital tool in understanding this condition, allowing for better care and support for affected individuals and their families. With the right interventions, individuals with Rubinstein-Taybi Syndrome can lead fulfilling lives. Early diagnosis through genetic testing is key to achieving the best possible outcomes.
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