Short Description

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

PreTest Information

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

Detail Description

PEX5 Gene Peroxisome Biogenesis Disorder Type 2A NGS Genetic DNA Test

PEX5 gene peroxisome biogenesis disorder type 2A is a rare genetic disorder that affects the peroxisomes in the body. Peroxisomes are small organelles in the body that are responsible for breaking down certain substances, such as fatty acids and amino acids. This disorder is caused by mutations in the PEX5 gene, which is responsible for the production of a protein that helps transport other proteins into the peroxisomes.

Symptoms of PEX5 Gene Peroxisome Biogenesis Disorder Type 2A

The symptoms of PEX5 gene peroxisome biogenesis disorder type 2A can vary from person to person. Some common symptoms include:

• Delayed development
• Low muscle tone
• Poor feeding
• Seizures
• Abnormalities in the brain, liver, and kidneys

Diagnosis of PEX5 Gene Peroxisome Biogenesis Disorder Type 2A

PEX5 gene peroxisome biogenesis disorder type 2A can be diagnosed through genetic testing. This involves analyzing a person's DNA to look for mutations in the PEX5 gene. Other tests, such as MRI and liver function tests, may also be used to help diagnose the disorder.

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

At DNA Labs India, we offer the PEX5 gene peroxisome biogenesis disorder type 2A NGS genetic DNA test for INR 20,000. This test uses next-generation sequencing technology to analyze a person's DNA for mutations in the PEX5 gene.

If you suspect that you or a loved one may have PEX5 gene peroxisome biogenesis disorder type 2A, it is important to speak with a healthcare professional. They can help you determine if genetic testing is necessary and provide guidance on next steps.

Contact DNA Labs India today to learn more about our PEX5 gene peroxisome biogenesis disorder type 2A NGS genetic DNA test and other genetic testing options.

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 2A NGS Genetic DNA Test