Reticular dysgenesis, a severe form of Severe Combined Immunodeficiency (SCID), is a rare genetic disorder that poses significant health risks right from birth. This disorder is attributed to mutations in the AK2 gene, which plays a crucial role in the development and functioning of the immune system. DNA Labs UAE offers a comprehensive genetic test specifically designed to detect mutations in the AK2 gene, helping in the early diagnosis and management of reticular dysgenesis. The cost of this vital genetic test is 4400 AED, a valuable investment in the health and future of individuals potentially affected by this condition.
Understanding the symptoms of reticular dysgenesis is crucial for early diagnosis and treatment. This genetic disorder affects multiple systems within the body, leading to a range of symptoms that are often present from birth. The primary symptoms associated with AK2 gene mutations include:
- Severe Combined Immunodeficiency: Infants with reticular dysgenesis are highly susceptible to bacterial, viral, and fungal infections due to profoundly impaired immune systems. These infections are often severe and can be life-threatening.
- Neutropenia: This condition is characterized by an abnormally low number of neutrophils, a type of white blood cell crucial for fighting infections. Neutropenia significantly increases the risk of infections.
- Hearing Loss: Sensorineural hearing loss is common in individuals with reticular dysgenesis due to the dysfunction of the inner ear or auditory nerve, affecting the ability to hear sounds clearly.
- Developmental Delays: Due to the severe infections and the body’s inability to fight them effectively, children with reticular dysgenesis may experience delays in reaching developmental milestones.
Early diagnosis through genetic testing can be life-saving for individuals with reticular dysgenesis. The AK2 gene reticular dysgenesis genetic test offered by DNA Labs UAE is a critical tool in identifying this condition. By detecting mutations in the AK2 gene, the test provides essential information for the management and treatment of affected individuals. The 4400 AED cost of the test is a small price to pay for the benefits it offers, including the possibility of life-saving interventions.
Treatment options for reticular dysgenesis are aimed at managing symptoms and preventing infections. Hematopoietic stem cell transplantation (HSCT) is currently the most effective treatment, offering the potential for a cure by replacing the defective immune system with a healthy one. Early diagnosis through genetic testing is crucial for the success of this treatment.
For more information on the AK2 gene reticular dysgenesis genetic test, including how to arrange for testing, please visit DNA Labs UAE. This comprehensive test is a vital step in the journey towards a healthier future for individuals affected by this severe genetic disorder.
