Short Description

NGS genetic DNA test detecets for variant and mutation detection in PAX2 gene for Papillorenal syndrome

PreTest Information

Clinical History of Patient who is going for PAX2 Gene Papillorenal syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX2 Gene Papillorenal syndrome NGS Genetic DNA Test gene PAX2

Detail Description

PAX2 Gene Papillorenal Syndrome NGS Genetic DNA Test – Symptoms, Diagnosis, and Cost

Papillorenal syndrome, also known as renal coloboma syndrome, is a rare genetic disorder that affects the development of the kidneys and the optic nerve. It is caused by mutations in the PAX2 gene, which is responsible for the formation of the kidneys and the eyes during embryonic development. Individuals with papillorenal syndrome may have abnormal kidney function and vision problems.

Symptoms

The symptoms of papillorenal syndrome can vary from person to person, but they typically include:

• Abnormal kidney function
• Vision problems, including cataracts, glaucoma, and retinal abnormalities
• Small or absent optic nerves
• Abnormalities in the shape or size of the kidneys, including cysts and malformations
• High blood pressure
• Frequent urinary tract infections

Diagnosis

Papillorenal syndrome is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor may perform a comprehensive eye exam, as well as imaging tests to evaluate the kidneys. Genetic testing can confirm the presence of a mutation in the PAX2 gene.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a cutting-edge technology that allows for the rapid sequencing of large amounts of DNA. This technology is used to identify mutations in the PAX2 gene associated with papillorenal syndrome. The NGS genetic DNA test is a non-invasive procedure that involves collecting a sample of blood or saliva from the patient. The sample is then analyzed in a laboratory to detect the presence of mutations in the PAX2 gene.

Cost

The cost of the NGS genetic DNA test for papillorenal syndrome in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific tests performed.

Conclusion

Papillorenal syndrome is a rare genetic disorder that can cause abnormalities in the kidneys and vision problems. The PAX2 gene NGS genetic DNA test is a non-invasive procedure that can accurately diagnose the presence of mutations in the PAX2 gene associated with papillorenal syndrome. The cost of the test in India is approximately INR 20,000, and it is important for individuals with a family history of the disorder or symptoms of the disorder to consider genetic testing for early diagnosis and treatment.

At DNA Labs India, we offer NGS genetic DNA testing for a variety of genetic disorders, including papillorenal syndrome. Our team of experts uses the latest technology and techniques to provide accurate and reliable results to our clients. If you have any questions about papillorenal syndrome or genetic testing, please don't hesitate to contact us.

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 PAX2 Gene Papillorenal syndrome NGS Genetic DNA Test