Symptoms and Testing information for Nx GEN Sequencing Leber Congenital Amaurosis Test

Symptoms and Testing information for Nx GEN Sequencing Leber Congenital Amaurosis Test

Leber Congenital Amaurosis (LCA) is a rare genetic disorder that affects the retina, the light-sensitive tissue at the back of the eye. It is one of the most severe forms of inherited retinal dystrophy, leading to major vision loss or blindness at an early age. Recognizing the symptoms of LCA is crucial for early diagnosis and intervention, which can significantly impact the quality of life of affected individuals. DNA Labs UAE offers the Nx Gen Sequencing Leber Congenital Amaurosis Test, a comprehensive genetic test designed to identify mutations in genes associated with LCA. This article delves into the symptoms of LCA that the test can help diagnose, alongside providing essential details about the test, including its cost.

Symptoms of Leber Congenital Amaurosis

Leber Congenital Amaurosis manifests in early childhood, often from birth. The primary symptoms include severe visual impairment or blindness. However, several other signs can indicate the presence of LCA, such as:

  • Nystagmus: This is an involuntary, repetitive movement of the eyes. It often appears in the first few months of life in children with LCA.
  • Photophobia: Children with LCA may exhibit sensitivity to light, finding bright lights uncomfortable or painful.
  • Poor Pupil Responses: The pupils may not respond normally to light, either not constricting as they should when exposed to light or doing so sluggishly.
  • Eye Rubbing or Pressing: Due to the discomfort and inability to see clearly, children might frequently rub or press their eyes.
  • Slow Visual Response: There may be a delayed response to visual stimuli, or in some cases, no response at all.

These symptoms are indicative of the underlying retinal dysfunction associated with LCA. It’s important to note that the severity and combination of symptoms can vary widely among individuals.

Nx Gen Sequencing Leber Congenital Amaurosis Test at DNA Labs UAE

DNA Labs UAE offers a state-of-the-art genetic test to diagnose Leber Congenital Amaurosis. The Nx Gen Sequencing Leber Congenital Amaurosis Test is a comprehensive examination that screens for mutations in all known genes associated with LCA. This test is crucial for confirming the diagnosis of LCA, understanding the specific genetic mutation involved, and providing information for potential treatment options.

The cost of the Nx Gen Sequencing Leber Congenital Amaurosis Test is 5730 AED. While the cost may seem significant, the value it provides in terms of accurate diagnosis and the potential for targeted treatment cannot be overstated. Early diagnosis and intervention can greatly improve the quality of life for individuals with LCA and provide families with the information they need to make informed decisions about care and management.

For more information about the Nx Gen Sequencing Leber Congenital Amaurosis Test and to schedule an appointment, please visit DNA Labs UAE.

Understanding the symptoms of Leber Congenital Amaurosis and the availability of advanced genetic testing can empower families and individuals facing this challenging diagnosis. With the support of DNA Labs UAE and the Nx Gen Sequencing Leber Congenital Amaurosis Test, there is hope for a clearer understanding and better management of LCA.

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