Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX14 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX14 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX14 Gene Zellweger syndrome

Detail Description

PEX14 Gene and Zellweger Syndrome NGS Genetic DNA Test

At DNA Labs India, we offer NGS genetic DNA testing for the PEX14 gene and Zellweger syndrome. This test is designed to detect mutations in the PEX14 gene that can lead to Zellweger syndrome, a rare genetic disorder that affects the development of many parts of the body.

What is Zellweger Syndrome?

Zellweger syndrome is a genetic disorder that affects the development of many parts of the body. It is caused by mutations in one of several genes that are involved in the formation of peroxisomes, which are structures in cells that help to break down fatty acids and perform other important functions.

People with Zellweger syndrome typically have a range of symptoms, including:

• Abnormal facial features
• Seizures
• Muscle weakness
• Hearing and vision loss
• Liver dysfunction
• Developmental delays

PEX14 Gene and Zellweger Syndrome

The PEX14 gene is one of several genes that are involved in the formation of peroxisomes. Mutations in this gene can lead to a deficiency of peroxisomes, which can cause Zellweger syndrome.

NGS genetic DNA testing for the PEX14 gene can detect mutations that are associated with Zellweger syndrome. This test is typically recommended for people who have a family history of Zellweger syndrome or who have symptoms that are consistent with the condition.

The Benefits of NGS Genetic DNA Testing

NGS genetic DNA testing is a highly accurate and reliable way to detect mutations in the PEX14 gene that can lead to Zellweger syndrome. This test can provide valuable information for patients and their families, including:

• Early diagnosis and treatment of Zellweger syndrome
• Identification of carriers of the PEX14 gene mutation
• Assessment of the risk of passing the mutation to future generations

The Cost of NGS Genetic DNA Testing

The cost of NGS genetic DNA testing for the PEX14 gene and Zellweger syndrome at DNA Labs India is INR 20,000. This cost includes the sample collection, processing, and analysis of the DNA sample.

Conclusion

NGS genetic DNA testing for the PEX14 gene and Zellweger syndrome is an important tool for the early diagnosis and treatment of this rare genetic disorder. If you have a family history of Zellweger syndrome or are experiencing symptoms that are consistent with the condition, we encourage you to talk to your doctor about the benefits of genetic testing.

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 PEX14 Gene Zellweger syndrome NGS Genetic DNA Test