Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX5 gene for Peroxisome biogenesis disorder type 2B

PreTest Information

Clinical History of Patient who is going for PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX5 Gene Peroxisome biogenesis disorder type 2B

Detail Description

PEX5 Gene Peroxisome Biogenesis Disorder Type 2B NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. Our team of experts offers advanced NGS genetic DNA tests to diagnose various genetic disorders. One such disorder is Peroxisome Biogenesis Disorder Type 2B, which is caused by mutations in the PEX5 gene. In this blog, we will discuss the symptoms, diagnosis, and cost of the PEX5 Gene Peroxisome Biogenesis Disorder Type 2B NGS Genetic DNA Test.

Symptoms of Peroxisome Biogenesis Disorder Type 2B

Peroxisome Biogenesis Disorder Type 2B is a rare genetic disorder that affects the development and function of peroxisomes, which are cellular organelles that are involved in various metabolic processes. The symptoms of this disorder can vary widely, but they often include:

• Developmental delays
• Seizures
• Vision problems
• Hearing loss
• Liver problems
• Kidney problems
• Abnormal facial features

These symptoms may be present at birth or may develop later in life. The severity of the symptoms can also vary widely, even among individuals with the same genetic mutation.

Diagnosis of Peroxisome Biogenesis Disorder Type 2B

The diagnosis of Peroxisome Biogenesis Disorder Type 2B is based on a combination of clinical symptoms, imaging studies, and genetic testing. NGS genetic DNA testing is the most accurate way to diagnose this disorder, as it can identify mutations in the PEX5 gene that are associated with the disorder.

DNA Labs India offers advanced NGS genetic DNA testing services that can accurately diagnose Peroxisome Biogenesis Disorder Type 2B. Our team of experts uses state-of-the-art equipment and techniques to analyze the DNA samples and identify any mutations in the PEX5 gene.

PEX5 Gene Peroxisome Biogenesis Disorder Type 2B NGS Genetic DNA Test Cost

The cost of the PEX5 Gene Peroxisome Biogenesis Disorder Type 2B NGS Genetic DNA Test is INR 20,000. This includes the cost of the DNA sample collection kit, shipping, analysis, and interpretation of the results. We also provide genetic counseling services to help patients and their families understand the implications of the test results.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to our patients. Our team of experts is dedicated to helping patients and their families get the answers they need to make informed decisions about their health.

Conclusion

Peroxisome Biogenesis Disorder Type 2B is a rare genetic disorder that can cause a range of symptoms, including developmental delays, seizures, and vision problems. NGS genetic DNA testing is the most accurate way to diagnose this disorder, and DNA Labs India offers advanced testing services at an affordable price. If you suspect that you or a loved one may have Peroxisome Biogenesis Disorder Type 2B, contact us today to learn more about our testing services.

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 PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic DNA Test