Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX16 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX16 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX16 Gene Zellweger syndrome

Detail Description

PEX16 Gene and Zellweger Syndrome: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

Zellweger syndrome is a rare, genetic disorder that affects the development of the brain and other organs. It is caused by mutations in one of the 13 different genes that are required for the proper functioning of peroxisomes, which are small, membrane-bound organelles that play a critical role in many metabolic processes. One of these genes is PEX16, which codes for a protein that is necessary for the formation of new peroxisomes. In this blog post, we will discuss the symptoms and diagnosis of Zellweger syndrome caused by mutations in the PEX16 gene, as well as the cost of NGS genetic DNA testing in India.

Symptoms of Zellweger Syndrome

The symptoms of Zellweger syndrome can vary depending on the severity of the disease and the specific gene mutations involved. However, some common symptoms include:

• Low muscle tone (hypotonia)
• Poor feeding or difficulty swallowing (dysphagia)
• Seizures
• Developmental delays and intellectual disability
• Liver dysfunction
• Hearing and vision problems
• Abnormally shaped facial features
• Small head size (microcephaly)

Many of these symptoms can be present at birth, but some may not become apparent until later in infancy or early childhood.

Diagnosis of Zellweger Syndrome

Diagnosing Zellweger syndrome can be challenging, as the symptoms are not specific to this disorder and can be caused by other conditions. However, if a healthcare provider suspects that a child may have Zellweger syndrome, they may order a variety of tests to confirm the diagnosis. These tests may include:

• Physical exam and medical history
• Genetic testing to look for mutations in one of the 13 genes associated with peroxisome function
• Blood tests to measure the levels of certain enzymes and other substances that are produced by peroxisomes
• Imaging studies, such as an MRI or CT scan, to evaluate the brain and other organs

NGS Genetic DNA Test Cost in India

NGS genetic DNA testing is a powerful tool that can be used to identify mutations in the PEX16 gene and other genes associated with Zellweger syndrome. This type of testing uses next-generation sequencing technology to analyze a patient's DNA and look for mutations that may be causing their symptoms. In India, the cost of NGS genetic DNA testing can vary depending on the specific test and the laboratory that performs it. However, on average, the cost of NGS genetic DNA testing for Zellweger syndrome in India is around INR 20,000.

Conclusion

Zellweger syndrome caused by mutations in the PEX16 gene is a rare but serious condition that can cause a variety of symptoms, including developmental delays, liver dysfunction, and hearing and vision problems. If a healthcare provider suspects that a child may have Zellweger syndrome, they may order a variety of tests to confirm the diagnosis, including genetic testing. In India, the cost of NGS genetic DNA testing for Zellweger syndrome is around INR 20,000, and this testing can be a powerful tool for identifying the underlying genetic cause of the disease.