Short Description

NGS genetic DNA test detecets for variant and mutation detection in PEX1 gene for Peroxisome biogenesis disorder type 1B

PreTest Information

Clinical History of Patient who is going for PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PEX1 Gene Peroxisome biogenesis disorder type 1B

Detail Description

PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test

PEX1 gene peroxisome biogenesis disorder type 1B is a rare genetic disorder that affects the peroxisomes in the body. The peroxisomes are responsible for breaking down fatty acids and other harmful substances in the body. When the PEX1 gene is mutated, it can lead to the development of peroxisome biogenesis disorder type 1B.

Symptoms of PEX1 Gene Peroxisome Biogenesis Disorder Type 1B

The symptoms of PEX1 gene peroxisome biogenesis disorder type 1B can vary from person to person. Some of the common symptoms include:

• Developmental delays
• Seizures
• Liver dysfunction
• Vision problems
• Impaired hearing
• Low muscle tone
• Weakness

Diagnosis of PEX1 Gene Peroxisome Biogenesis Disorder Type 1B

The diagnosis of PEX1 gene peroxisome biogenesis disorder type 1B is typically done through genetic testing. A NGS (next-generation sequencing) genetic DNA test can be used to identify mutations in the PEX1 gene. This test is highly accurate and can provide a definitive diagnosis.

PEX1 Gene Peroxisome Biogenesis Disorder Type 1B NGS Genetic DNA Test Cost

The cost of the PEX1 gene peroxisome biogenesis disorder type 1B NGS genetic DNA test in India is approximately INR 20,000. This cost may vary depending on the laboratory and other factors.

Conclusion

If you or a loved one is experiencing symptoms of PEX1 gene peroxisome biogenesis disorder type 1B, it is important to seek medical attention. A NGS genetic DNA test can provide a definitive diagnosis and help you understand your condition better. The cost of the test may vary, but it is a small price to pay for the knowledge and understanding it can provide.

At DNA Labs India, we provide high-quality NGS genetic DNA testing services at affordable prices. Our team of experts is dedicated to providing accurate and timely results to our clients. Contact us today to learn more about our 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 PEX1 Gene Peroxisome biogenesis disorder type 1B NGS Genetic DNA Test