Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX2 gene for Zellweger syndrome

PreTest Information

Clinical History of Patient who is going for PEX2 Gene Zellweger syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX2 Gene Zellweger syndrome

Detail Description

PEX2 Gene and Zellweger Syndrome: Understanding the NGS Genetic DNA Test Cost and Diagnosis

DNA Labs India offers a range of genetic tests that help people understand their risk of inherited diseases. One such test is the NGS Genetic DNA Test, which examines the PEX2 gene and can help diagnose Zellweger syndrome.

What is Zellweger Syndrome?

Zellweger syndrome is a rare genetic disorder that affects the way the body processes fatty acids. It is caused by mutations in any one of several genes, including the PEX2 gene. Symptoms of the condition include:

• Poor muscle tone
• Developmental delays
• Seizures
• Vision and hearing problems
• Liver dysfunction

There is no cure for Zellweger syndrome, and treatment typically focuses on managing symptoms. Early diagnosis is important, as it can help families plan for the future and ensure that affected children receive appropriate care.

The Role of the PEX2 Gene in Zellweger Syndrome

The PEX2 gene provides instructions for making a protein that is involved in the formation of peroxisomes. Peroxisomes are small organelles in cells that help break down fatty acids and other substances. When the PEX2 gene is mutated, peroxisomes do not form correctly, which leads to the symptoms of Zellweger syndrome.

NGS Genetic DNA Test for Zellweger Syndrome

The NGS Genetic DNA Test offered by DNA Labs India examines the PEX2 gene for mutations that are associated with Zellweger syndrome. The test is non-invasive and involves collecting a sample of saliva or blood. The cost of the test is INR 20,000.

Who Should Get Tested?

The NGS Genetic DNA Test is recommended for individuals who have a family history of Zellweger syndrome or who have symptoms that suggest the condition. The test can also be used to screen newborns for the condition, as early diagnosis can improve outcomes.

Conclusion

Zellweger syndrome is a rare genetic disorder that can have significant impacts on affected individuals and their families. The NGS Genetic DNA Test offered by DNA Labs India can help diagnose the condition and provide families with the information they need to plan for the future. If you have concerns about Zellweger syndrome or other inherited conditions, talk to your healthcare provider about genetic testing options.