Warburg Micro Syndrome is a rare genetic disorder that significantly impacts the development and function of various parts of the body. This condition is characterized by a wide range of symptoms, primarily affecting the eyes, brain, and reproductive organs. One of the genes associated with this syndrome is RAB3GAP1, and mutations in this gene lead to Warburg Micro Syndrome Type 1. Understanding the symptoms and undergoing genetic testing for this condition is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this syndrome, aimed at providing crucial information for affected families.
Symptoms of Warburg Micro Syndrome Type 1
Warburg Micro Syndrome Type 1 manifests through a variety of symptoms that are noticeable from birth or early infancy. These include:
- Microcephaly: A significantly smaller head size compared to other children of the same age and sex, indicating reduced brain growth.
- Ocular Abnormalities: These can range from microphthalmia (abnormally small eyes), cataracts, and optic atrophy, leading to severe vision impairment or blindness.
- Developmental Delays: Affected children often experience significant delays in reaching developmental milestones, such as sitting up, walking, and talking.
- Hypotonia: A condition of reduced muscle tone, leading to floppiness and difficulties with movement and posture.
- Reproductive Organ Abnormalities: Males may have undescended testicles, and females might experience underdeveloped reproductive organs.
- Neurological Issues: Including seizures and intellectual disability, varying from mild to severe.
It is important to note that the severity and combination of these symptoms can vary widely among affected individuals. Early diagnosis through genetic testing can help in managing the symptoms more effectively and planning for the future.
Genetic Test for RAB3GAP1 Gene Warburg Micro Syndrome Type 1
DNA Labs UAE provides a specialized genetic test for detecting mutations in the RAB3GAP1 gene, responsible for Warburg Micro Syndrome Type 1. This test is a vital tool for confirming the diagnosis, especially in families with a history of the syndrome or for parents who are carriers of the mutation.
The test involves a simple blood draw or cheek swab from the affected individual. The sample is then analyzed in our advanced genetic lab to detect the presence of specific mutations in the RAB3GAP1 gene. Our team of genetic experts ensures accurate and reliable results, providing a solid foundation for understanding the condition and its implications for the affected individual and their family.
Test Cost
The cost of the RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the test procedure, analysis, and a comprehensive report detailing the findings. Our team is committed to providing support and guidance throughout the testing process, ensuring that families receive the information and assistance they need.
Conclusion
Warburg Micro Syndrome Type 1 is a challenging condition, but early diagnosis through genetic testing can significantly improve the quality of life for affected individuals and their families. DNA Labs UAE is dedicated to offering advanced genetic testing services, including the RAB3GAP1 Gene Warburg Micro Syndrome Type 1 Genetic Test, to help families navigate the complexities of this rare genetic disorder. For more information and to schedule a test, please visit our website.
