Nijmegen Breakage Syndrome (NBS) is a rare genetic disorder characterized by microcephaly (abnormally small head), a distinct facial appearance, growth retardation, an increased susceptibility to infections, and a higher risk of cancer, particularly lymphoma. This condition is caused by mutations in the NBN gene, which plays a crucial role in DNA repair and the maintenance of genomic stability. Recognizing the symptoms of NBS is essential for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for NBS, aimed at detecting mutations in the NBN gene.
Symptoms of Nijmegen Breakage Syndrome
Individuals with Nijmegen Breakage Syndrome exhibit a range of clinical features, which can vary in severity. Some of the most common symptoms include:
- Microcephaly: A significantly smaller head size compared to others of the same age and sex.
- Distinct facial features: These may include a sloping forehead, a prominent nose, large ears, and a receding mandible.
- Growth retardation: Affected individuals may experience delayed growth, resulting in short stature.
- Immunodeficiency: A weakened immune system leads to an increased susceptibility to infections.
- Increased risk of cancer: There is a significantly higher risk of developing malignancies, especially lymphomas and leukemias.
- Developmental delays: Some individuals may experience delays in reaching developmental milestones.
- Radiosensitivity: An increased sensitivity to ionizing radiation, which can lead to adverse reactions following exposure.
NBN Gene Nijmegen Breakage Syndrome Genetic Test at DNA Labs UAE
Understanding the genetic basis of Nijmegen Breakage Syndrome is critical for accurate diagnosis and appropriate management of the condition. DNA Labs UAE offers a specialized genetic test designed to identify mutations in the NBN gene. This test is a valuable tool for confirming the diagnosis of NBS, particularly in individuals who exhibit the characteristic symptoms of the disorder.
The test involves collecting a DNA sample, usually through a blood draw, which is then analyzed using advanced genetic sequencing techniques. This analysis can detect the specific mutations in the NBN gene that are associated with NBS. The results of the test can provide crucial information for affected individuals and their families, including the confirmation of the diagnosis, the assessment of the risk of developing related health issues, and the identification of carriers within the family.
Test Cost and Additional Information
The cost of the NBN Gene Nijmegen Breakage Syndrome Genetic Test at DNA Labs UAE is 4400 AED. This price includes the collection of the sample, the genetic analysis, and a comprehensive report detailing the findings. For more information about the test, including how to schedule an appointment and prepare for the test, please visit DNA Labs UAE.
Early diagnosis and intervention are key to managing Nijmegen Breakage Syndrome effectively. With the help of the NBN Gene Nijmegen Breakage Syndrome Genetic Test, individuals and families affected by this condition can gain a better understanding of their genetic status and take informed steps towards managing their health. DNA Labs UAE is committed to providing accurate, reliable genetic testing services to help improve the lives of those affected by genetic disorders.
