Symptoms and Testing information for GNAT2 Gene Achromatopsia Type 4 Genetic Test

Symptoms and Testing information for GNAT2 Gene Achromatopsia Type 4 Genetic Test

Achromatopsia, a rare genetic condition affecting approximately 1 in 30,000 individuals worldwide, is characterized by a significant reduction or complete absence of color vision. Among the genes implicated in this condition, the GNAT2 gene is noteworthy for its role in Achromatopsia Type 4. DNA Labs UAE is at the forefront of genetic testing for this condition, offering a comprehensive genetic test designed to identify mutations in the GNAT2 gene.

Understanding Achromatopsia Type 4

Achromatopsia Type 4, caused by mutations in the GNAT2 gene, is a form of achromatopsia distinguished by its genetic origins. The GNAT2 gene is crucial for the normal functioning of cone cells in the retina, which are responsible for color vision. Mutations in this gene disrupt the normal processing of visual signals, leading to the symptoms associated with achromatopsia.

Symptoms of GNAT2 Gene Achromatopsia Type 4

Individuals with GNAT2 gene achromatopsia type 4 typically exhibit a range of symptoms from birth or early childhood, which include:

  • Color Blindness: The most characteristic symptom, where individuals are unable to perceive colors correctly, often seeing the world in shades of gray.
  • Photophobia: An increased sensitivity to light, causing discomfort or pain in brightly lit environments.
  • Nystagmus: Involuntary eye movements that can lead to reduced vision quality.
  • Reduced Visual Acuity: Vision clarity is significantly diminished, even with the use of corrective lenses.

These symptoms are indicative of the underlying genetic mutation affecting the cone cells’ functionality, leading to the observed visual impairments.

GNAT2 Gene Achromatopsia Type 4 Genetic Test at DNA Labs UAE

DNA Labs UAE offers a specialized genetic test for the GNAT2 gene to diagnose Achromatopsia Type 4. This test is crucial for individuals experiencing the aforementioned symptoms or for families with a history of the condition. Early diagnosis can facilitate better management of the symptoms and improve the quality of life for those affected.

The genetic test involves a simple, non-invasive procedure that examines the DNA for mutations in the GNAT2 gene. The process is straightforward, requiring only a sample of saliva or blood, making it an accessible option for individuals of all ages.

Cost of the Test

The cost of the GNAT2 gene achromatopsia type 4 genetic test at DNA Labs UAE is 4400 AED. This price includes the full cost of the test procedure, from sample collection to the provision of results and a comprehensive report explaining the findings.

Why Choose DNA Labs UAE?

DNA Labs UAE is a leading provider of genetic testing services, with a commitment to delivering accurate, reliable, and timely results. The laboratory is equipped with state-of-the-art technology and staffed by a team of experts in the field of genetics. By choosing DNA Labs UAE for the GNAT2 gene achromatopsia type 4 genetic test, individuals can be assured of:

  • High-quality testing conducted in a certified laboratory
  • Confidential handling of all personal and medical information
  • Comprehensive support throughout the testing process
  • Access to genetic counseling to understand the implications of the test results

For more information on the GNAT2 gene achromatopsia type 4 genetic test, or to schedule a test, please visit DNA Labs UAE.

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