Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX26 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX26 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX26 Gene Zellweger syndrome

Detail Description

PEX26 Gene and Zellweger Syndrome: Understanding Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

PEX26 gene is responsible for encoding a protein called peroxisomal biogenesis factor 26 (PEX26). This protein is essential for the formation of peroxisomes, which are cell organelles that play a crucial role in several metabolic processes, including the breakdown of fatty acids and the detoxification of harmful substances.

When there is a mutation in the PEX26 gene, it can lead to the development of a rare genetic disorder known as Zellweger syndrome. This condition affects multiple systems of the body, including the brain, liver, and kidneys, and can be life-threatening in severe cases.

Symptoms of Zellweger Syndrome

The symptoms of Zellweger syndrome can vary widely among affected individuals, but some of the most common signs include:

• Poor muscle tone and weak reflexes
• Seizures
• Developmental delays
• Vision and hearing problems
• Liver dysfunction
• Abnormal facial features
• Respiratory difficulties

These symptoms usually appear shortly after birth or during infancy and tend to worsen over time.

Diagnosis of Zellweger Syndrome

Zellweger syndrome can be diagnosed through various tests, including:

• Physical examination to evaluate symptoms and features
• Blood tests to detect abnormal levels of certain compounds
• Brain imaging tests such as MRI and CT scan
• Genetic testing to identify mutations in PEX26 gene

Genetic testing is the most reliable and definitive method of diagnosing Zellweger syndrome. It involves analyzing a sample of DNA to identify any mutations or abnormalities in the PEX26 gene that may be responsible for the disorder.

NGS Genetic DNA Test Cost in India

NGS (Next-Generation Sequencing) is a type of genetic testing that uses advanced technology to analyze multiple genes simultaneously and accurately. This test can be used to diagnose various genetic disorders, including Zellweger syndrome.

The cost of NGS genetic DNA test in India can vary depending on the laboratory and location. On average, the cost of NGS genetic DNA test for Zellweger syndrome in India is around INR 20,000.

Conclusion

Zellweger syndrome is a rare genetic disorder that can have severe and life-threatening consequences. Understanding the symptoms and diagnosis of this condition can help in early detection and proper management. NGS genetic DNA testing is a reliable and accurate method of diagnosing Zellweger syndrome, and its cost in India is affordable and accessible.

At DNA Labs India, we offer comprehensive genetic testing services, including NGS genetic DNA testing for Zellweger syndrome. Our team of experienced professionals and state-of-the-art laboratory facilities ensure accurate and timely results. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PEX26 Gene Zellweger syndrome NGS Genetic DNA Test