Zellweger Syndrome represents a spectrum of rare, congenital disorders characterized by the absence or malfunction of peroxisomes in the cells of the liver, kidneys, and brain. Among the genes implicated in this condition, mutations in the PEX2 gene are a known cause. DNA Labs UAE offers a comprehensive genetic test for the PEX2 gene mutation, providing crucial information for families affected by Zellweger Syndrome. Understanding the symptoms and implications of this genetic mutation can empower individuals and families to seek appropriate medical and supportive care.
Understanding Zellweger Syndrome
Zellweger Syndrome, also known as peroxisome biogenesis disorder, affects multiple systems in the body, leading to significant health challenges. It is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene, one from each parent, to be affected. The absence or malfunction of peroxisomes leads to the accumulation of toxic substances, which can damage organs and tissues, particularly in the brain, liver, and kidneys.
Symptoms of PEX2 Gene Zellweger Syndrome
The symptoms of Zellweger Syndrome caused by PEX2 gene mutations can vary widely among affected individuals but typically include a range of neurological, physical, and developmental features. Key symptoms include:
- High levels of iron and copper in the blood
- Impaired liver function
- High forehead and widely spaced eyes
- Poor muscle tone and coordination
- Difficulty feeding and poor growth
- Hearing and vision impairments
- Seizures
- Developmental delays
- Facial dysmorphisms
It’s important to note that the severity and combination of these symptoms can vary, making early and accurate diagnosis vital for managing the condition.
PEX2 Gene Zellweger Syndrome Genetic Test at DNA Labs UAE
DNA Labs UAE offers a genetic test specifically designed to identify mutations in the PEX2 gene associated with Zellweger Syndrome. This test is crucial for confirming a diagnosis, which can then guide treatment and management strategies. Early diagnosis through genetic testing can also provide families with valuable information for future family planning.
The test involves a simple blood draw or saliva sample, which is then analyzed in our state-of-the-art laboratory. Our team of genetic specialists uses the latest technology to ensure accurate and reliable results.
Test Cost
The cost of the PEX2 Gene Zellweger Syndrome Genetic Test at DNA Labs UAE is 4400 AED. While the cost may seem significant, the value of the information it provides cannot be overstated. Early diagnosis and intervention can lead to better management of the condition and improve the quality of life for those affected.
Conclusion
Zellweger Syndrome is a challenging condition that affects individuals and families in profound ways. The PEX2 Gene Zellweger Syndrome Genetic Test offered by DNA Labs UAE is a critical tool in understanding and managing this condition. With accurate diagnosis, families can access targeted interventions and support, helping affected individuals achieve their fullest potential. For more information and to schedule a test, please visit https://dnalabsuae.com/tests/pex2-gene-zellweger-syndrome-genetic-test/.
