Symptoms of ERCC6 Gene Cockayne Syndrome Type B Genetic Test
Cockayne Syndrome (CS) is a rare and complex genetic disorder characterized by growth failure, premature aging, and sensitivity to sunlight. Type B, associated with mutations in the ERCC6 gene, is one of the forms of this syndrome. Recognizing the symptoms early can significantly impact the management and quality of life for those affected. DNA Labs UAE offers a comprehensive genetic test for ERCC6 gene mutations to facilitate early diagnosis and intervention.
Understanding Cockayne Syndrome Type B
Cockayne Syndrome Type B is caused by mutations in the ERCC6 gene, which plays a critical role in DNA repair. When this gene is mutated, it leads to the accumulation of DNA damage, contributing to the various symptoms associated with the syndrome. The condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.
Key Symptoms of Cockayne Syndrome Type B
Individuals with Cockayne Syndrome Type B exhibit a range of symptoms, which may vary in severity. Some of the key symptoms include:
- Growth failure starting in infancy
- Microcephaly (small head size)
- Premature aging, including wrinkled skin and loss of subcutaneous fat
- Neurodevelopmental delay and intellectual disability
- Sensitivity to sunlight (photosensitivity)
- Eye abnormalities, such as cataracts and retinal degeneration
- Hearing loss
- Dental issues, including cavities and tooth decay
- Movement disorders
The Importance of Genetic Testing for Cockayne Syndrome Type B
Genetic testing for mutations in the ERCC6 gene is crucial for the accurate diagnosis of Cockayne Syndrome Type B. Early diagnosis can lead to better management of symptoms and improved outcomes. DNA Labs UAE offers a specialized genetic test for this purpose. The test involves analyzing the patient’s DNA to identify mutations in the ERCC6 gene that are indicative of Cockayne Syndrome Type B.
Test Cost and Procedure
The cost of the ERCC6 Gene Cockayne Syndrome Type B Genetic Test at DNA Labs UAE is 4400 AED. The testing process is straightforward and involves collecting a DNA sample, usually through a blood draw or a cheek swab. The sample is then analyzed in the laboratory to detect any mutations in the ERCC6 gene.
Conclusion
Understanding the symptoms of Cockayne Syndrome Type B and the importance of early genetic testing cannot be overstated. With the comprehensive genetic test offered by DNA Labs UAE, families and individuals can take a significant step towards managing this complex condition. For more information and to schedule a test, visit https://dnalabsuae.com/tests/ercc6-gene-cockayne-syndrome-type-b-genetic-test/.
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