Understanding Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis
Diamond-Blackfan Anemia (DBA) is a rare genetic disorder characterized by the failure of the bone marrow to produce adequate red blood cells. This condition can lead to severe anemia and various physical abnormalities. A particular subtype of this condition, known as Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis, is associated with mutations in the TSR2 gene. This subtype not only affects the bone marrow’s ability to produce red blood cells but also leads to distinctive craniofacial abnormalities due to mandibulofacial dysostosis.
Symptoms of Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis
The symptoms of this condition can vary significantly among affected individuals. However, some of the most common symptoms include:
- Severe anemia presenting in infancy
- Physical malformations such as cleft palate, micrognathia (small jaw), and ear abnormalities
- Delayed growth and development
- Increased risk of infections
- Possible congenital heart defects
- Thrombocytopenia (low platelet count) or neutropenia (low white blood cell count) in some cases
Importance of Genetic Testing for TSR2 Gene Mutations
Genetic testing plays a crucial role in diagnosing Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis. By identifying mutations in the TSR2 gene, healthcare providers can confirm the diagnosis, which is essential for initiating the appropriate treatment and management strategies. Moreover, genetic testing can offer valuable information for family planning and understanding the risk of recurrence in future pregnancies.
TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test
At DNA Labs UAE, we offer a comprehensive genetic test specifically designed to detect mutations in the TSR2 gene associated with Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis. Our state-of-the-art laboratory is equipped with the latest technology to ensure accurate and reliable results. The test involves a simple blood draw, and our team of genetic counselors is available to provide support and guidance throughout the testing process.
Test Cost
The cost of the TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test is 4400 AED. We understand that the cost of genetic testing can be a concern for many families, which is why we strive to provide the most competitive pricing without compromising the quality of our services.
Conclusion
Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis is a complex condition that requires a comprehensive approach to diagnosis and management. Genetic testing for mutations in the TSR2 gene is an essential step in confirming the diagnosis and facilitating the best possible care for affected individuals. At DNA Labs UAE, we are committed to providing accurate and accessible genetic testing services to help families navigate the challenges of genetic disorders.
For more information about the TSR2 Gene Diamond-Blackfan Anemia Type 14 with Mandibulofacial Dysostosis Genetic Test, please visit our website at DNA Labs UAE.
