Vitamin D plays a crucial role in maintaining bone health by facilitating calcium absorption in the gut. However, for individuals with Vitamin D-Resistant Rickets (VDDR Type 2A), this process is impaired due to mutations in the Vitamin D Receptor (VDR) gene. This condition, also known as hereditary vitamin D-resistant rickets, is characterized by the body’s inability to respond to the active form of vitamin D, leading to a range of symptoms and complications. DNA Labs UAE offers a comprehensive genetic test for VDDR Type 2A, aimed at identifying mutations in the VDR gene, which is crucial for early diagnosis and management of the condition.
Symptoms of VDR Gene Rickets Vitamin D-Resistant Type 2A
The symptoms of Vitamin D-Resistant Rickets Type 2A are primarily related to impaired bone mineralization and can vary in severity among affected individuals. Key symptoms include:
- Growth retardation: Affected children may exhibit significantly slower growth rates, leading to short stature.
- Bone pain and tenderness: Insufficient mineralization can make bones more susceptible to pain and tenderness.
- Muscle weakness: Muscle strength is often compromised, affecting mobility and physical activity.
- Hypocalcemia: Low levels of calcium in the blood can lead to symptoms such as numbness, tingling in the fingers, convulsions, and abnormal heart rhythms.
- Deformities: Without proper treatment, individuals may develop bone deformities including bowlegs or knock knees, and cranial, spinal, and pelvic abnormalities.
- Dental anomalies: Delayed tooth eruption, enamel hypoplasia, and increased susceptibility to cavities are common dental issues associated with this condition.
Early diagnosis and intervention are critical to managing the symptoms of VDDR Type 2A and preventing long-term complications. The genetic test offered by DNA Labs UAE is an essential tool in this process.
Genetic Test for VDR Gene Rickets Vitamin D-Resistant Type 2A
DNA Labs UAE provides a specialized genetic test for the VDR gene to identify mutations associated with Vitamin D-Resistant Rickets Type 2A. The test involves analyzing the patient’s DNA sample for specific mutations in the VDR gene that are known to cause the condition. This test is crucial for confirming the diagnosis, especially in cases where the clinical presentation is unclear or when other forms of rickets have been ruled out.
The cost of the VDR Gene Rickets Vitamin D-Resistant Type 2A Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of sample collection, genetic analysis, and a comprehensive report that explains the findings in detail. The report also provides valuable information for healthcare providers to tailor a management plan that addresses the specific needs of the patient.
For more information about the VDR Gene Rickets Vitamin D-Resistant Type 2A Genetic Test and to schedule a test, please visit DNA Labs UAE.
Understanding the genetic basis of Vitamin D-Resistant Rickets Type 2A is essential for effective treatment and management. With the genetic testing services provided by DNA Labs UAE, patients and their families can gain insights into their condition, enabling better-informed decisions about their health care. Early detection and appropriate intervention can significantly improve the quality of life for individuals affected by this challenging condition.
