Greenberg Skeletal Dysplasia, also known as Greenberg Dysplasia or HEM skeletal dysplasia, is a rare and severe genetic disorder. This condition is characterized by various skeletal abnormalities that are present at birth. Caused by mutations in the LBR gene, this disorder has significant implications for the development of the bones and cartilage. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the LBR Gene Greenberg Skeletal Dysplasia, aiding in the detection and understanding of this condition.
Symptoms of Greenberg Skeletal Dysplasia
Greenberg Skeletal Dysplasia manifests through several distinct symptoms, primarily affecting the skeletal system. These include:
- Hydrops fetalis: This is a severe, life-threatening condition where there is abnormal accumulation of fluid in two or more fetal compartments, leading to generalized swelling.
- Short-limbed dwarfism: Individuals with this condition often exhibit significantly shorter limbs compared to the trunk, affecting stature and mobility.
- Facial abnormalities: These can include a cleft palate, underdeveloped jaw, and a flat nasal bridge.
- Chondrodystrophy: This involves abnormal development of cartilage and bone, leading to skeletal deformities.
- Ectopic ossification centers: Abnormal, extra centers of bone formation can occur, leading to irregular bone development and growth.
- Thickened skin: Skin may appear thicker than normal, often described as “hyperplastic.”
It’s important to note that the severity and combination of these symptoms can vary widely among affected individuals. Early detection through genetic testing can provide crucial information for managing this condition.
LBR Gene Greenberg Skeletal Dysplasia Genetic Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test designed to detect mutations in the LBR gene, which are responsible for Greenberg Skeletal Dysplasia. This test is a critical tool for confirming the diagnosis, understanding the risk of recurrence in a family, and for future family planning. The test involves a simple blood sample from which DNA is extracted and analyzed for specific mutations associated with the disorder.
Test Cost
The cost of the LBR Gene Greenberg Skeletal Dysplasia Genetic Test at DNA Labs UAE is 4400 AED. This includes the cost of the blood draw, genetic analysis, and a comprehensive report detailing the results and their implications.
Conclusion
Greenberg Skeletal Dysplasia is a severe genetic condition with significant implications for affected individuals and their families. Understanding the symptoms and undergoing genetic testing can provide invaluable information for managing this condition. DNA Labs UAE is committed to providing accurate and comprehensive genetic testing services, including the LBR Gene Greenberg Skeletal Dysplasia Genetic Test. For more information and to schedule a test, visit our website.
