Zellweger Syndrome is a rare, inherited disorder that disrupts the normal functions of the cell’s peroxisomes. These are structures in cells that help break down toxic substances and synthesize lipids necessary for cell membrane integrity. The PEX13 gene plays a crucial role in the formation and function of peroxisomes. Mutations in the PEX13 gene can lead to Zellweger Syndrome, which is part of a group of diseases known as peroxisome biogenesis disorders. Understanding the symptoms of this genetic condition is vital for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for the PEX13 gene Zellweger Syndrome, which is a crucial step towards understanding and managing this condition.
Symptoms of PEX13 Gene Zellweger Syndrome
Zellweger Syndrome presents with a wide range of symptoms, which can vary significantly in severity among affected individuals. The most common symptoms associated with this condition include:
- High levels of iron and copper in the blood
- Impaired liver function
- High levels of very long-chain fatty acids (VLCFAs)
- Neurological impairments such as hypotonia (reduced muscle tone), seizures, and developmental delays
- Characteristic facial features, including a high forehead, broad nasal bridge, and epicanthal folds
- Vision and hearing problems
- Difficulty feeding and poor growth
- Skeletal abnormalities such as craniofacial dysmorphia
It is important to note that the severity and presence of these symptoms can vary widely among individuals with Zellweger Syndrome. Early diagnosis and intervention are crucial for managing symptoms and improving the quality of life for affected individuals.
PEX13 Gene Zellweger Syndrome Genetic Test
DNA Labs UAE provides a genetic test specifically designed to identify mutations in the PEX13 gene associated with Zellweger Syndrome. This test is an essential tool for confirming the diagnosis of Zellweger Syndrome, especially in individuals who present with the characteristic symptoms of the disorder. Genetic testing can also provide valuable information for family planning and genetic counseling for families affected by this condition.
The PEX13 gene Zellweger Syndrome genetic test involves collecting a small sample of blood or saliva from the individual. This sample is then analyzed in our state-of-the-art laboratory to identify any mutations in the PEX13 gene. The results of this test can help guide further medical management and interventions.
Test Cost
The cost of the PEX13 gene Zellweger Syndrome genetic test at DNA Labs UAE is 4400 AED. This cost includes the collection of the sample, analysis in our laboratory, and a comprehensive report detailing the findings of the test.
For more information about the PEX13 gene Zellweger Syndrome genetic test and to schedule a test, please visit our website at DNA Labs UAE.
Early diagnosis and genetic testing are crucial steps in managing Zellweger Syndrome effectively. By understanding the symptoms associated with the PEX13 gene mutation and utilizing available genetic testing options, individuals and families can seek the necessary medical support and interventions to improve health outcomes. DNA Labs UAE is committed to providing accurate and reliable genetic testing services to help individuals and healthcare providers make informed decisions regarding the management of genetic conditions such as Zellweger Syndrome.
