At DNA Labs UAE, we are committed to providing comprehensive genetic testing services to help individuals and families understand their genetic health. One of the specialized tests we offer is the DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 Genetic Test. This test is critical for diagnosing a rare genetic disorder that can have significant implications for the health and well-being of affected individuals.
Symptoms of DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1
The condition, often abbreviated as ICF Syndrome Type 1, is characterized by a triad of primary symptoms: immunodeficiency, centromeric instability, and facial anomalies. These symptoms can vary in severity among individuals but are pivotal in diagnosing the syndrome.
- Immunodeficiency: Individuals with ICF Syndrome Type 1 typically present with a compromised immune system, making them more susceptible to infections. This immunodeficiency is often evident from early childhood and can lead to recurrent respiratory infections, gastroenteritis, and other infectious diseases.
- Centromeric Instability: This refers to structural abnormalities in the chromosomes, particularly in the centromeric regions. This instability can lead to various chromosomal anomalies that contribute to the clinical manifestations of the syndrome.
- Facial Anomalies: Facial dysmorphisms are common in individuals with this condition. These can include features such as a flattened nasal bridge, epicanthal folds, low-set ears, and a high-arched or cleft palate.
Other symptoms may include growth retardation, intellectual disability, and, in some cases, psychiatric symptoms. Due to the wide range of symptoms and their varying degrees of severity, a genetic test is crucial for an accurate diagnosis.
DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 Genetic Test
The DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 Genetic Test offered by DNA Labs UAE is a sophisticated diagnostic tool. This test specifically looks for mutations in the DNMT3B gene, which are responsible for the syndrome. A mutation in this gene affects the body’s ability to methylate DNA correctly, leading to the symptoms associated with the syndrome.
The process involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in our state-of-the-art laboratory. Our team of genetic experts uses advanced sequencing techniques to identify any mutations in the DNMT3B gene.
The cost of the DNMT3B Gene Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 Genetic Test is 4400 AED. While the cost may seem significant, it is a critical investment in your or your loved one’s health. An accurate diagnosis can lead to a better understanding of the condition, informed decision-making regarding treatment options, and improved management of symptoms.
For more information or to schedule a test, please visit our website: DNA Labs UAE.
At DNA Labs UAE, we are dedicated to providing you with the highest quality genetic testing services. Our team of experts is here to support you through every step of the process, from understanding the need for the test to interpreting the results. Trust us to be your partner in your genetic health journey.
