Short Description

NGS genetic DNA test detecets for variant and mutation detection in OAT gene for Gyrate atrophy of choroid and retina with or without ornithinemia

PreTest Information

Clinical History of Patient who is going for OAT Gene Gyrate atrophy of choroid and retina with or without ornithinemia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with OAT Gene Gyrate atrophy of choroid and retina with or without ornithinemia NGS Genetic DNA Test gene OAT

Detail Description

OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Gyrate atrophy of the choroid and retina (GA) is a rare genetic eye disorder that affects the retina and choroid. GA can be caused by mutations in the OAT gene, which codes for the enzyme ornithine aminotransferase (OAT).

Ornithine aminotransferase is an enzyme that helps break down the amino acid ornithine. If the enzyme is not working properly, ornithine and other substances build up in the body, leading to damage to the retina and choroid. GA can cause vision loss and blindness.

Symptoms of GA

The symptoms of GA can vary, but typically include:

• Night blindness
• Loss of peripheral vision
• Central vision loss
• Blurred vision
• Cataracts

Diagnosis of GA

The diagnosis of GA typically involves a comprehensive eye exam, including a visual acuity test, dilated eye exam, and a visual field test. In addition, a blood test may be done to check for high levels of ornithine. A genetic test may also be done to look for mutations in the OAT gene.

NGS Genetic DNA Test for OAT Gene Mutations

The OAT gene can be tested for mutations using next-generation sequencing (NGS) technology. NGS is a high-throughput method of DNA sequencing that allows for the rapid sequencing of large amounts of DNA. The NGS test for OAT gene mutations can detect both known and novel mutations in the gene.

Cost of NGS Genetic DNA Test for OAT Gene Mutations

The cost of the NGS genetic DNA test for OAT gene mutations is INR 20000.

Conclusion

Gyrate atrophy of the choroid and retina is a rare genetic eye disorder that can cause vision loss and blindness. It can be caused by mutations in the OAT gene, which codes for the enzyme ornithine aminotransferase. A genetic test using NGS technology can detect mutations in the OAT gene. The cost of the test is INR 20000. If you are experiencing symptoms of GA, talk to your doctor about getting tested.

For more information on genetic testing and DNA labs in India, contact DNA Labs India.

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 OAT Gene Gyrate atrophy of choroid and retina with or without ornithinemia NGS Genetic DNA Test