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PAX6 Gene Foveal hypoplasia type 1 Genetic Test

4,400 د.إ

-21%

The PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test is a specialized diagnostic tool offered by DNA Labs UAE, aimed at detecting mutations in the PAX6 gene, which are implicated in the development of Foveal Hypoplasia Type 1. Foveal hypoplasia is a rare eye disorder characterized by the underdevelopment of the fovea, the small depression in the retina responsible for sharp central vision. This condition can lead to reduced visual acuity and other vision impairments. The PAX6 gene plays a crucial role in eye development, and mutations in this gene can disrupt the normal formation of the eye, leading to foveal hypoplasia among other ocular anomalies.

The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any genetic alterations in the PAX6 gene. Early and accurate diagnosis through this genetic testing can be critical for the management and treatment of the condition, allowing for timely intervention and support.

DNA Labs UAE offers this comprehensive genetic test for a cost of 4400 AED. The price reflects the sophisticated technology and expertise required to accurately identify mutations in the PAX6 gene and provide a definitive diagnosis. For families and individuals facing the possibility of foveal hypoplasia, this test represents a crucial step in understanding their condition and exploring potential treatment options.

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PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test

At DNA Labs UAE, we offer the PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test for individuals who suspect they may have this genetic disorder. This test is designed to identify mutations in the PAX6 gene that cause foveal hypoplasia type 1 (FH1), a rare eye disorder characterized by the underdevelopment or absence of the fovea.

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

Prior to undergoing the PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test, it is important for the patient to provide their clinical history. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by FH1. This information will help in the interpretation of the test results.

Test Details

The PAX6 gene plays a crucial role in eye development by producing a protein essential for proper functioning. Mutations in this gene can lead to various eye disorders, including FH1. Individuals with FH1 typically experience poor visual acuity and reduced color vision due to the underdevelopment or absence of the fovea, which is responsible for sharp, detailed vision.

Our PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test utilizes NGS technology to sequence the entire coding region of the gene. This comprehensive approach allows us to identify any changes or variations in the DNA sequence that may be indicative of FH1-causing mutations. Detecting a PAX6 mutation can aid in the diagnosis and management of FH1, as well as provide valuable information for genetic counseling and family planning.

By offering the PAX6 Gene Foveal Hypoplasia Type 1 Genetic Test, DNA Labs UAE aims to provide individuals with a better understanding of their genetic makeup and the potential risks associated with FH1. Early detection and intervention can significantly improve the quality of life for individuals affected by this rare eye disorder.

Test Name PAX6 Gene Foveal hypoplasia type 1 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 PAX6 Gene Foveal hypoplasia type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PAX6 Gene Foveal hypoplasia type 1 NGS Genetic DNA Test gene PAX6
Test Details

The PAX6 gene is responsible for producing a protein that is crucial for eye development. Mutations in this gene can cause various eye disorders, including foveal hypoplasia type 1 (FH1).

FH1 is a rare eye disorder characterized by the underdevelopment or absence of the fovea, a small central area of the retina that is responsible for sharp, detailed vision. People with FH1 typically have poor visual acuity and reduced color vision.

NGS genetic testing can detect mutations in the PAX6 gene that cause FH1. This test involves sequencing the entire coding region of the gene to identify any changes or variations in the DNA sequence.

Identifying a PAX6 mutation can help with the diagnosis and management of FH1. It can also provide important information for genetic counseling and family planning.