Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX3 gene for Peroxisome biogenesis disorder type 10A

PreTest Information

Clinical History of Patient who is going for PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX3 Gene Peroxisome biogenesis disorder type 10A

Detail Description

PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test

PEX3 Gene Peroxisome Biogenesis Disorder Type 10A is a rare genetic disorder that affects peroxisome biogenesis. The PEX3 gene provides instructions for making a protein that is essential for the formation of peroxisomes, which are organelles that perform a variety of important functions in cells.

PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test is a test that can detect mutations in the PEX3 gene. This test uses Next Generation Sequencing (NGS) technology to analyze the DNA sequence of the PEX3 gene and identify any changes or mutations that may be present.

Symptoms of PEX3 Gene Peroxisome Biogenesis Disorder Type 10A

The symptoms of PEX3 Gene Peroxisome Biogenesis Disorder Type 10A can vary, but may include:

• Developmental delay
• Intellectual disability
• Seizures
• Abnormal muscle tone
• Visual impairment
• Hearing loss
• Abnormalities in the liver, kidneys, and/or brain

Diagnosis of PEX3 Gene Peroxisome Biogenesis Disorder Type 10A

PEX3 Gene Peroxisome Biogenesis Disorder Type 10A is diagnosed through genetic testing. A blood or saliva sample is collected from the individual and sent to a laboratory for analysis. The laboratory will use NGS technology to sequence the DNA of the PEX3 gene and identify any mutations that may be present.

If a mutation is identified, further testing may be necessary to confirm the diagnosis and determine the specific type of PEX3 Gene Peroxisome Biogenesis Disorder.

Cost of PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test

The cost of PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test offered by DNA Labs India is INR 20,000.

Conclusion

PEX3 Gene Peroxisome Biogenesis Disorder Type 10A is a rare genetic disorder that can have serious consequences. Genetic testing can help identify individuals who may be at risk for the disorder and provide important information for families and healthcare providers.

If you are interested in learning more about PEX3 Gene Peroxisome Biogenesis Disorder Type 10A NGS Genetic DNA Test offered by DNA Labs India, please contact us today.

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 PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic DNA Test