Symptoms of VPS45 Gene Neutropenia Severe Congenital Type 5 Autosomal Recessive Genetic Test
Neutropenia Severe Congenital Type 5, also known as VPS45-associated neutropenia, is a rare autosomal recessive genetic disorder that significantly impacts the immune system. This condition is caused by mutations in the VPS45 gene, which plays a crucial role in vesicle trafficking processes essential for normal neutrophil function. Individuals with this disorder are prone to recurrent bacterial infections, which can be severe due to the reduced number and impaired function of neutrophils, a type of white blood cell vital for fighting off infections.
Key Symptoms and Health Implications
The primary symptoms of VPS45-associated neutropenia include a markedly reduced number of neutrophils (neutropenia), leading to an increased susceptibility to bacterial infections. These infections can be recurrent and severe, affecting various parts of the body, including the skin, lungs, and oral cavity. Additional health implications and symptoms may include:
- Developmental delays
- Failure to thrive in infancy
- Anemia
- Thrombocytopenia (low platelet count)
- Enlarged spleen (splenomegaly)
Due to the autosomal recessive nature of this condition, a child must inherit two copies of the mutated gene, one from each parent, to manifest symptoms. Parents, who are carriers of the mutation, typically do not show any symptoms of the disease.
Importance of Genetic Testing
Genetic testing for the VPS45 gene is crucial for the accurate diagnosis of Neutropenia Severe Congenital Type 5. Early diagnosis through genetic testing can facilitate timely and appropriate medical interventions, significantly improving the quality of life and reducing the risk of severe infections. The test involves analyzing the DNA to identify mutations in the VPS45 gene that cause the disorder.
Understanding the Test and Its Cost
DNA Labs UAE offers a comprehensive genetic test for identifying mutations in the VPS45 gene associated with Neutropenia Severe Congenital Type 5. This test is essential for individuals with a family history of the condition or who exhibit symptoms suggestive of this form of neutropenia. The cost of the test is 4400 AED, reflecting the sophisticated technology and expertise required to accurately identify the genetic mutations responsible for the condition.
For more information about the VPS45 gene neutropenia severe congenital type 5 autosomal recessive genetic test and to schedule your test, please visit DNA Labs UAE.
Conclusion
Neutropenia Severe Congenital Type 5 is a challenging condition, but early diagnosis through genetic testing can lead to better management and outcomes. Understanding the symptoms and the importance of genetic testing is crucial for individuals at risk. With advancements in genetic testing technologies, identifying and managing such rare genetic disorders has become more accessible, offering hope to affected individuals and their families. DNA Labs UAE is at the forefront of providing these essential genetic testing services, aiding in the accurate diagnosis and better management of Neutropenia Severe Congenital Type 5.
