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

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The “OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test” is a specialized diagnostic procedure aimed at detecting mutations in the OAT gene, which are responsible for gyrate atrophy of the choroid and retina. This rare genetic disorder is characterized by progressive vision loss, typically beginning in childhood or adolescence. The condition may also be associated with ornithinemia, an abnormal accumulation of ornithine in the blood due to the body’s inability to properly metabolize this amino acid.

Performed at DNA Labs UAE, this genetic test plays a crucial role in the early identification and management of the disorder. By analyzing a sample of the patient’s DNA, the test can confirm the presence of specific mutations in the OAT gene, thereby aiding in the diagnosis of gyrate atrophy and guiding treatment decisions. The cost of the test is 4400 AED, reflecting the specialized technology and expertise required to accurately identify the genetic mutations associated with this condition.

Early diagnosis through this genetic test is essential for managing symptoms, slowing the progression of vision loss, and improving the quality of life for affected individuals. It also provides valuable information for family planning and the assessment of risk in future offspring.

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OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test

Are you or someone you know experiencing progressive vision loss? It could be a result of gyrate atrophy of the choroid and retina with or without ornithinemia. This rare genetic disorder can be diagnosed through a genetic test called the OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test.

Test Details

The OAT gene is associated with gyrate atrophy of the choroid and retina with or without ornithinemia. This disorder is characterized by the degeneration of the retina and choroid, leading to progressive vision loss. It is caused by a deficiency of the enzyme ornithine aminotransferase (OAT), which is responsible for breaking down the amino acid ornithine. Mutations in the OAT gene can result in a decrease or complete loss of OAT activity, leading to an accumulation of ornithine in the body and damage to the retina and choroid.

Test Components and Price

The OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test is available at DNA Labs UAE for a cost of 4400.0 AED. The test can be performed using blood or extracted DNA, or even just one drop of blood on an FTA card.

Report Delivery and Method

After undergoing the test, you can expect to receive your report within 3 to 4 weeks. The test is conducted using NGS (Next Generation Sequencing) technology, which allows for a comprehensive analysis of the OAT gene.

Test Type and Doctor

The OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test falls under the category of Ophthalmology Disorders. It is recommended to consult with an ophthalmologist for this test.

Test Department and Pre-Test Information

The test is conducted in the Genetics department. Prior to the test, it is important to provide the clinical history of the patient who will be undergoing the test. Additionally, a genetic counseling session may be conducted to create a pedigree chart of family members affected by the disorder.

Treatment and Management

If diagnosed with gyrate atrophy of the choroid and retina with or without ornithinemia, treatment may involve dietary restrictions of arginine and supplementation with vitamin B6. These measures can help reduce ornithine levels in the body and manage the disorder.

Don’t let progressive vision loss go undiagnosed. Take the OAT Gene Gyrate Atrophy of Choroid and Retina with or without Ornithinemia Genetic Test today and take control of your eye health.

Test Name OAT Gene Gyrate atrophy of choroid and retina with or without ornithinemia Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Ophthalmology Disorders
Doctor Ophthalmologist
Test Department: Genetics
Pre Test 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
Test Details

The OAT gene is associated with a rare genetic disorder called gyrate atrophy of choroid and retina with or without ornithinemia. This disorder is characterized by progressive vision loss due to degeneration of the retina and choroid, which are important structures for vision. Ornithinemia refers to the presence of high levels of the amino acid ornithine in the blood, which is caused by a deficiency of the enzyme ornithine aminotransferase (OAT).

The OAT gene provides instructions for making the OAT enzyme, which is involved in the breakdown of ornithine. Mutations in the OAT gene can result in a decrease or complete loss of OAT activity, leading to an accumulation of ornithine in the body. This accumulation can cause damage to the retina and choroid, leading to vision loss.

NGS genetic testing can be used to identify mutations in the OAT gene that are associated with gyrate atrophy of choroid and retina with or without ornithinemia. This testing can help with diagnosis, genetic counseling, and management of the disorder. Treatment may involve dietary restriction of arginine and supplementation with vitamin B6, which can help to reduce ornithine levels in the body.