Neutropenia, a condition characterized by abnormally low levels of neutrophils, a type of white blood cell crucial for fighting off infections, can present itself in various forms, one of which is Severe Congenital Neutropenia Type 2 (SCN2). This particular type is caused by mutations in the GFI1 gene and is inherited in an autosomal dominant pattern. Understanding the symptoms and genetic background of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, aimed at aiding in the diagnosis and familial genetic counseling.
Symptoms of GFI1 Gene Neutropenia Severe Congenital Type 2
The symptoms associated with GFI1 Gene Neutropenia Severe Congenital Type 2 are primarily due to the reduced ability of the immune system to fight off infections. Individuals with this condition may experience:
- Recurrent bacterial infections from an early age, which can be severe and include conditions such as pneumonia, otitis media (ear infections), and skin infections.
- Oral ulcers and gingivitis, which are often one of the first signs noticed in affected infants and children.
- Fevers of unknown origin, due to the body’s response to unrecognized infections.
- Overall poor growth and development, as a result of the energy expended in fighting off continuous infections.
These symptoms can vary significantly in severity among affected individuals, with some experiencing frequent hospitalizations due to severe infections, while others may have milder symptoms.
Understanding the Genetic Test
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the GFI1 gene, which are responsible for Severe Congenital Neutropenia Type 2. This test is crucial for:
- Confirming a clinical diagnosis of SCN2.
- Understanding the risk of passing the condition on to future generations.
- Informing treatment and management decisions, including considerations for bone marrow transplant.
- Providing a basis for genetic counseling for affected families.
The genetic test involves a simple blood draw from the patient, after which the sample is analyzed for specific mutations in the GFI1 gene. The results of this test can provide invaluable information for affected individuals and their families.
Cost of the Test
The cost of the GFI1 Gene Neutropenia Severe Congenital Type 2 Autosomal Dominant Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, it’s important to consider the value of the information provided by this test, not just for the patient, but for their immediate and extended family members as well.
Conclusion
Early diagnosis and management of GFI1 Gene Neutropenia Severe Congenital Type 2 are crucial for improving the quality of life of affected individuals. The genetic test offered by DNA Labs UAE plays a vital role in achieving this goal. For more information about the test and to schedule an appointment, please visit our website.
