Osteopetrosis, a rare bone disorder, comes in various forms, but the autosomal recessive type 7, associated with mutations in the TNFRSF11A gene, is among the specific types that necessitate a detailed understanding due to its genetic nature and potential impact on affected individuals. DNA Labs UAE is at the forefront of genetic testing and offers a comprehensive genetic test for this condition, aiding in early diagnosis and better management of the disease. This article delves into the symptoms of TNFRSF11A gene osteopetrosis autosomal recessive type 7 and provides essential information about the genetic test available at DNA Labs UAE, including its cost.
Symptoms of TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7
Osteopetrosis autosomal recessive type 7 is a genetic condition characterized by increased bone density and abnormal bone growth. This condition results from mutations in the TNFRSF11A gene, which plays a crucial role in the development and function of osteoclasts, the cells responsible for bone resorption. The symptoms of this type of osteopetrosis can vary significantly among affected individuals but typically include:
- Fractures: Despite the increased bone density, bones are brittle and more prone to fractures.
- Anemia: Expansion of the bone marrow space can lead to a reduced capacity to produce blood cells, causing anemia.
- Delayed Growth: Affected children may experience slower growth rates compared to their peers.
- Visual and Hearing Impairments: Abnormal bone growth can exert pressure on nerves, leading to vision and hearing problems.
- Abnormal Facial Features: Overgrowth of bone in the facial area can lead to distinctive facial features.
- Dental Problems: Increased bone density can affect tooth eruption and health.
- Immune System Deficiencies: Some affected individuals may have an impaired immune system, leading to increased susceptibility to infections.
Genetic Test for TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7 at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for diagnosing osteopetrosis autosomal recessive type 7 caused by mutations in the TNFRSF11A gene. This test is crucial for confirming the diagnosis, understanding the risk of passing the condition to future generations, and guiding treatment decisions. The genetic test involves a detailed analysis of the TNFRSF11A gene to identify mutations that cause the condition.
The cost of the TNFRSF11A gene osteopetrosis autosomal recessive type 7 genetic test at DNA Labs UAE is 4400 AED. This investment in health can provide invaluable insights into the condition, facilitating early intervention and tailored management strategies that significantly improve the quality of life for affected individuals and their families.
For more information about the TNFRSF11A gene osteopetrosis autosomal recessive type 7 genetic test and to schedule your test, please visit DNA Labs UAE.
Conclusion
Osteopetrosis autosomal recessive type 7 is a complex condition that requires a comprehensive approach for diagnosis and management. Understanding the symptoms is the first step towards recognizing the condition early in affected individuals. The genetic test offered by DNA Labs UAE for the TNFRSF11A gene mutation is a critical tool in confirming the diagnosis and paving the way for effective treatment and management strategies. With the test cost at 4400 AED, it represents a significant step forward in personalized medicine and offers hope for those affected by this rare genetic disorder.