Short-Rib Thoracic Dysplasia Type 11 with or Without Polydactyly (SRPS11) is a rare genetic disorder that affects the development of the skeleton, particularly the ribs and long bones, and can also affect the development of the fingers and toes. This condition is part of a group of disorders known as ciliopathies, which are caused by defects in the function or structure of cilia, which are small, hair-like projections on the surface of cells. The WDR34 gene plays a crucial role in the formation and function of cilia, and mutations in this gene are responsible for SRPS11.
Understanding the symptoms and obtaining an accurate diagnosis through genetic testing is vital for the management and treatment of SRPS11. DNA Labs UAE offers a comprehensive genetic test for SRPS11, specifically targeting mutations in the WDR34 gene. This test is crucial for individuals presenting symptoms of SRPS11 or who have a family history of the condition.
Symptoms of Short-Rib Thoracic Dysplasia Type 11
SRPS11 manifests with a range of symptoms that can vary significantly in severity among affected individuals. The most common symptoms include:
- Shortening of the ribs and long bones, which can lead to a narrow chest and difficulties with breathing.
- Polydactyly, which is the presence of extra fingers or toes.
- Congenital heart defects, which are heart conditions present from birth.
- Renal anomalies, including structural and functional issues with the kidneys.
- Developmental delays, including delays in sitting, standing, and walking.
- Facial dysmorphism, which may include a prominent forehead, a flat nasal bridge, and low-set ears.
It is important to note that the presence and severity of these symptoms can vary, and not all individuals with SRPS11 will have all these symptoms.
Genetic Testing for SRPS11
DNA Labs UAE offers a specialized genetic test for SRPS11, focusing on identifying mutations in the WDR34 gene. This test is designed for individuals who exhibit symptoms of SRPS11, as well as for those who have a family history of the condition. Early diagnosis through genetic testing can facilitate timely intervention and management strategies to improve the quality of life for those affected.
The genetic test for SRPS11 offered by DNA Labs UAE is priced at 4400 AED. This cost covers the analysis of the WDR34 gene for mutations associated with SRPS11. The test is performed using a blood sample, and the results are typically available within a few weeks. The results of this test can provide valuable information for diagnosis, treatment planning, and genetic counseling.
Why Choose DNA Labs UAE for SRPS11 Genetic Testing?
DNA Labs UAE is a leading provider of genetic testing services in the United Arab Emirates. Our laboratory is equipped with state-of-the-art technology and staffed by a team of highly skilled geneticists and laboratory technicians. We are committed to providing accurate and reliable genetic testing services, including the SRPS11 genetic test. Our focus on quality and customer service ensures that individuals and families receive the support they need throughout the testing process.
For more information about the SRPS11 genetic test and to schedule a test, please visit our website at DNA Labs UAE.
In conclusion, SRPS11 is a complex condition that requires careful management and support. Genetic testing for mutations in the WDR34 gene is a crucial step in confirming a diagnosis and facilitating effective management strategies. DNA Labs UAE is here to support individuals and families affected by SRPS11 through our comprehensive genetic testing services.
