Symptoms and Testing information for CTC1 Gene Coat Plus Syndrome Genetic Test

Symptoms and Testing information for CTC1 Gene Coat Plus Syndrome Genetic Test

DNA Labs UAE is at the forefront of genetic testing and analysis, offering a wide array of services designed to provide insights into one’s genetic makeup. Among these services is the CTC1 Gene Coat Plus Syndrome Genetic Test, a comprehensive examination aimed at detecting the presence of mutations in the CTC1 gene, which can indicate the presence of Coat Plus Syndrome. This condition, though rare, presents a series of symptoms that can significantly affect the quality of life of those diagnosed with it. Understanding these symptoms is crucial for early detection and management of the syndrome.

What is Coat Plus Syndrome?

Coat Plus Syndrome is a genetic disorder characterized by a variety of symptoms that stem from mutations in the CTC1 gene. These mutations affect several body systems, leading to a complex clinical presentation. The syndrome is named after the most prominent feature, Coats’ disease, which involves abnormal development of the blood vessels in the retina, potentially leading to vision loss. However, Coat Plus Syndrome encompasses a broader range of symptoms beyond the eye-related issues.

Symptoms of Coat Plus Syndrome

Individuals with Coat Plus Syndrome may exhibit a wide range of symptoms, varying significantly from one person to another. Some of the most common symptoms include:

  • Retinal telangiectasia and exudates, characteristic of Coats’ disease, leading to visual impairment.
  • Bone marrow dysfunction, which can manifest as anemia, neutropenia, or thrombocytopenia, affecting the body’s ability to fight infections, carry oxygen, and clot blood, respectively.
  • Cerebral calcifications, which can lead to neurological symptoms such as seizures, intellectual disability, and developmental delays.
  • Dental anomalies, including delayed tooth eruption and abnormalities in tooth shape or number.
  • Nail dystrophy, characterized by poorly formed or absent nails.
  • Skin abnormalities, such as sparse hair and a distinctive facial appearance.

It is important to note that the presence and severity of these symptoms can vary widely among individuals with Coat Plus Syndrome. Early detection and intervention are crucial for managing the condition and improving the quality of life for those affected.

CTC1 Gene Coat Plus Syndrome Genetic Test

Understanding the genetic basis of Coat Plus Syndrome is essential for accurate diagnosis and management. The CTC1 Gene Coat Plus Syndrome Genetic Test offered by DNA Labs UAE is designed to identify mutations in the CTC1 gene that are associated with the condition. This test is an invaluable tool for individuals with a family history of Coat Plus Syndrome or those exhibiting symptoms consistent with the disorder.

The test is priced at 4400 AED and involves a simple procedure. Detailed information about the test, including how to prepare and what to expect, can be found at DNA Labs UAE.

Conclusion

Coat Plus Syndrome is a complex genetic disorder that can significantly impact an individual’s quality of life. Early detection through genetic testing, such as the CTC1 Gene Coat Plus Syndrome Genetic Test offered by DNA Labs UAE, plays a crucial role in the management of the condition. If you or a loved one are experiencing symptoms associated with Coat Plus Syndrome or have a family history of the disorder, consider undergoing genetic testing. For more information, visit DNA Labs UAE.

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