Cockayne Syndrome Type A, also known as CSA, is a rare genetic disorder that affects many parts of the body. The syndrome is primarily characterized by poor growth, premature aging, and sensitivity to sunlight. It is caused by mutations in the ERCC8 gene, also known as the CSA gene, which plays a crucial role in repairing DNA damage. Understanding the symptoms of Cockayne Syndrome Type A is vital for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic test for this syndrome, providing a crucial tool for families seeking answers.
Symptoms of Cockayne Syndrome Type A
The symptoms of Cockayne Syndrome Type A can vary significantly from one individual to another but generally include a combination of growth, neurological, and sensory impairments. Key symptoms include:
- Growth Failure: One of the hallmark symptoms of Cockayne Syndrome Type A is severely stunted physical growth, with affected individuals often appearing much younger than their chronological age.
- Neurological Impairments: Many individuals experience a range of neurological issues, including developmental delays, difficulty with coordination and movement, and in some cases, intellectual disability.
- Sensory Problems: Vision and hearing loss are common among those with Cockayne Syndrome Type A, often progressing as the individual ages.
- Photosensitivity: A heightened sensitivity to sunlight, leading to sunburn or rash with minimal sun exposure, is another characteristic symptom of this condition.
- Premature Aging: Individuals with Cockayne Syndrome Type A often show signs of premature aging, such as wrinkled skin, hair loss, and dental issues.
ERCC8 Gene Cockayne Syndrome Type A Genetic Test
Diagnosing Cockayne Syndrome Type A involves a comprehensive approach, including clinical evaluation and genetic testing. DNA Labs UAE offers a specialized genetic test for the ERCC8 gene, enabling precise identification of mutations associated with Cockayne Syndrome Type A. This test is an invaluable resource for families seeking a definitive diagnosis.
The genetic test involves a simple process, requiring only a sample of blood or saliva. The sample is then analyzed in our state-of-the-art laboratory, where our team of experts examines the ERCC8 gene for any mutations that are known to cause Cockayne Syndrome Type A. The results of this test can provide families with the answers they need to understand their condition and to plan for the future.
Test Cost
The cost of the ERCC8 Gene Cockayne Syndrome Type A Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the full testing process, from sample collection to the comprehensive analysis and reporting of results. Understanding the financial aspect of genetic testing is important, and DNA Labs UAE is committed to providing transparent information about test costs.
Conclusion
Cockayne Syndrome Type A is a complex condition that requires a multidisciplinary approach for management and care. Early diagnosis through genetic testing can significantly impact the quality of life for those affected and their families. DNA Labs UAE is at the forefront of providing advanced genetic testing services, including the ERCC8 Gene Cockayne Syndrome Type A Genetic Test. For more information about this test and to schedule an appointment, please visit https://dnalabsuae.com/tests/ercc8-gene-cockayne-syndrome-type-a-genetic-test/.
