Introduction

Zellweger Syndrome is a rare genetic disorder that affects the development of many organs and systems in the body. It is caused by mutations in any of the 13 genes that encode proteins involved in the formation and function of peroxisomes, which are essential organelles in the cells responsible for various metabolic processes.

One of these genes is PEX12, which is responsible for the production of a protein that plays a crucial role in the biogenesis of peroxisomes. Mutations in this gene can lead to the development of Zellweger Syndrome, among other peroxisomal disorders.

Symptoms

The symptoms of Zellweger Syndrome can vary widely in severity and presentation, but they typically include:

• Hypotonia (low muscle tone)
• Hearing and vision loss
• Liver dysfunction
• Seizures
• Developmental delay
• Distinct facial features

Diagnosis

Zellweger Syndrome can be diagnosed through a combination of physical examination, imaging tests, and genetic testing. A blood or tissue sample can be analyzed to detect mutations in the PEX12 gene or other peroxisomal genes using next-generation sequencing (NGS) technology. This can provide a definitive diagnosis and also help identify carriers and at-risk family members.

NGS Genetic DNA Test Cost

The cost of the NGS Genetic DNA Test for Zellweger Syndrome and other peroxisomal disorders at DNA Labs India is INR 20000. This includes the sample collection kit, shipping, analysis, and a detailed report with interpretation and recommendations.

Conclusion

Zellweger Syndrome is a rare genetic disorder that can have serious and life-threatening consequences. However, early diagnosis and intervention can improve outcomes and quality of life for affected individuals and their families. DNA testing, such as the NGS Genetic DNA Test offered by DNA Labs India, can provide a comprehensive and accurate diagnosis for peroxisomal disorders like Zellweger Syndrome.