Symptoms of ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2
The ZBTB24 gene is critical for the proper development and function of the immune system. Mutations in this gene can lead to a complex disorder known as Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 (ICF2). This condition is characterized by a combination of immune system deficiencies, distinct facial features, and abnormalities in the chromosomes. Understanding the symptoms and undergoing genetic testing can be crucial for managing the condition effectively.
Key Symptoms of ICF2
ICF2 presents a range of symptoms that can vary significantly among affected individuals. However, some common symptoms associated with the disorder include:
- Immunodeficiency: Recurrent infections, particularly respiratory infections, are common due to compromised immune function.
- Facial Anomalies: Distinct facial features may include a flat nasal bridge, epicanthic folds, and low-set ears.
- Centromeric Instability: This refers to abnormalities in the chromosomes, particularly in the centromere region, which can lead to further complications.
- Growth Delay: Individuals with ICF2 may experience growth delays or failure to thrive in infancy.
- Neurodevelopmental Delays: Developmental delays and intellectual disabilities can occur, although the severity varies.
It’s important to note that the presence and severity of symptoms can vary greatly among individuals with ICF2. Early diagnosis and intervention are crucial for managing the condition and improving the quality of life for those affected.
Genetic Testing for ICF2
Genetic testing for the ZBTB24 gene mutation can confirm a diagnosis of ICF2. DNA Labs UAE offers a comprehensive ZBTB24 Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 Genetic Test designed to detect mutations in the ZBTB24 gene. This test is crucial for individuals presenting with symptoms of ICF2 or for those with a family history of the condition.
The test is priced at 4400 AED and involves a simple procedure to collect a DNA sample. The results from this test can provide valuable information for managing the condition, including tailored treatment plans and interventions to improve immune function and manage symptoms.
Conclusion
ICF2 is a complex genetic disorder that requires a comprehensive approach to diagnosis and management. Recognizing the symptoms early and undergoing genetic testing can make a significant difference in the lives of those affected. DNA Labs UAE is committed to providing accurate and reliable genetic testing services, including the ZBTB24 gene test, to support individuals and families navigating the challenges of ICF2.
For more information or to schedule a test, please visit our website at DNA Labs UAE.
