DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive range of services designed to provide individuals with insights into their genetic makeup. One of the critical tests offered by DNA Labs UAE is the GBE1 Gene Andersen Disease Genetic Test. This test is crucial for diagnosing Andersen Disease, also known as Glycogen Branching Enzyme Deficiency (GBED), a rare genetic disorder that affects the body’s ability to store and utilize energy properly.
Symptoms of Andersen Disease
Andersen Disease is caused by mutations in the GBE1 gene, leading to a deficiency in the enzyme responsible for adding branches to the glycogen molecule. This enzyme deficiency disrupts normal glycogen synthesis, resulting in the accumulation of abnormal glycogen in tissues, particularly in the liver, muscles, and nervous system. The symptoms of Andersen Disease can vary widely among affected individuals but typically include:
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Progressive muscle weakness and wasting, affecting mobility and physical activities.
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Cardiomyopathy, which is a disease of the heart muscle that can lead to heart failure.
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Liver enlargement (hepatomegaly) which can lead to liver dysfunction and, in severe cases, liver failure.
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Neurological issues, including developmental delays, difficulty in coordination, and seizures.
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Hypotonia, or reduced muscle tone, often described as “floppiness.”
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Failure to thrive in infancy, which includes feeding difficulties, poor weight gain, and growth retardation.
It’s important to note that the severity and combination of these symptoms can vary, and not all individuals with Andersen Disease will experience all these symptoms.
GBE1 Gene Andersen Disease Genetic Test
The GBE1 Gene Andersen Disease Genetic Test offered by DNA Labs UAE is a targeted genetic test designed to detect mutations in the GBE1 gene that are known to cause Andersen Disease. This test is performed through a simple blood sample, making it a minimally invasive procedure. Once the sample is collected, it is analyzed using advanced genetic sequencing techniques to identify any mutations in the GBE1 gene.
This test is particularly recommended for individuals who have a family history of Andersen Disease or who exhibit symptoms associated with the disorder. Early diagnosis through genetic testing can be crucial in managing the symptoms of Andersen Disease and improving the quality of life for those affected.
Test Cost
The cost of the GBE1 Gene Andersen Disease Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the collection of the sample, the genetic analysis, and a comprehensive report detailing the findings of the test. The report will provide valuable insights into the individual’s genetic health, helping to guide further medical care and management.
Conclusion
Andersen Disease is a rare but serious genetic disorder that can have significant impacts on an individual’s health and well-being. The GBE1 Gene Andersen Disease Genetic Test offered by DNA Labs UAE is a critical tool in the diagnosis and management of this condition. By understanding the genetic basis of Andersen Disease, individuals and their families can take proactive steps towards managing the symptoms and improving their quality of life.
For more information about the GBE1 Gene Andersen Disease Genetic Test and other genetic testing services offered by DNA Labs UAE, please visit https://dnalabsuae.com/tests/gbe1-gene-andersen-disease-genetic-test/.
