Symptoms and Testing information for PDE6H Gene Achromatopsia Type 6 Genetic Test

Symptoms and Testing information for PDE6H Gene Achromatopsia Type 6 Genetic Test

Achromatopsia is a rare, inherited eye condition that significantly affects an individual’s vision, characterized primarily by a severe limitation in color discrimination, decreased vision, light sensitivity, and involuntary eye movements. Among the genes associated with this condition, mutations in the PDE6H gene are known to cause Achromatopsia Type 6. Understanding the symptoms of this genetic condition is crucial for early diagnosis and management. In response to the growing need for precise genetic testing, DNA Labs UAE offers a comprehensive PDE6H Gene Achromatopsia Type 6 Genetic Test.

Symptoms of PDE6H Gene Achromatopsia Type 6

Achromatopsia Type 6, caused by mutations in the PDE6H gene, presents with several hallmark symptoms that can significantly impact the quality of life. These symptoms include:

  • Color Vision Deficiency: Individuals with this condition have difficulty distinguishing between different colors, often perceiving the world in varying shades of gray.
  • Light Sensitivity (Photophobia): Excessive sensitivity to light and glare is common, making bright environments uncomfortable and challenging to navigate.
  • Reduced Visual Acuity: Vision clarity is notably diminished, with individuals often having visual acuity that falls below the 20/200 threshold in both eyes.
  • Nystagmus: Involuntary eye movements, or nystagmus, are frequently observed in individuals with Achromatopsia Type 6, further complicating their visual capabilities.

Early recognition of these symptoms is vital for the timely intervention and support for those affected by this genetic condition.

Understanding the PDE6H Gene Achromatopsia Type 6 Genetic Test

DNA Labs UAE is at the forefront of providing genetic testing services that cater to a wide array of genetic conditions, including Achromatopsia Type 6. The PDE6H Gene Achromatopsia Type 6 Genetic Test is a specialized examination designed to detect mutations in the PDE6H gene, offering crucial insights for individuals and families affected by this condition.

This genetic test is not only a tool for diagnosis but also plays a significant role in guiding the management and treatment plans for individuals with Achromatopsia Type 6. By understanding the genetic underpinnings of the condition, healthcare providers can tailor interventions that address the specific needs of each patient.

Test Cost and Availability

The PDE6H Gene Achromatopsia Type 6 Genetic Test is priced at 4400 AED, reflecting the comprehensive nature of this diagnostic tool. This cost encompasses the full spectrum of services provided by DNA Labs UAE, from the initial consultation to the delivery of results and post-test support.

For more information on the PDE6H Gene Achromatopsia Type 6 Genetic Test, or to schedule an appointment, please visit DNA Labs UAE.

With the advancement of genetic testing, individuals at risk of Achromatopsia Type 6 now have access to critical information that can aid in managing the condition more effectively. DNA Labs UAE remains committed to providing accurate, timely, and accessible genetic testing services to those in need.

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