In the realm of genetic testing and diagnostics, the ERCC3 gene trichothiodystrophy genetic test stands out as a critical tool for identifying a rare autosomal recessive disorder that impacts various systems within the body. Trichothiodystrophy, characterized by brittle hair, intellectual disability, and physical growth impairment, is a condition that requires early detection for effective management. DNA Labs UAE is at the forefront of providing this essential testing service, with a comprehensive approach to understanding and diagnosing this condition.
Symptoms of Trichothiodystrophy
Trichothiodystrophy is associated with a broad spectrum of symptoms, which can vary significantly in severity among affected individuals. The most common signs of this condition include:
- Brittle, Sparse, and Short Hair: The hallmark of trichothiodystrophy is hair that is dry, brittle, and lacks the normal shine, often leading to reduced hair density.
- Intellectual Disability: Many individuals with trichothiodystrophy experience developmental delays or intellectual disabilities, impacting their learning and daily functioning.
- Physical Growth Impairment: Growth delays are another key feature, with affected individuals often displaying reduced growth in height and weight.
- Skin Abnormalities: The skin may appear dry and scaly, a condition known as ichthyosis, which is commonly associated with trichothiodystrophy.
- Photosensitivity: Sensitivity to sunlight, leading to rashes or burns, is frequently reported, indicating the need for careful sun protection measures.
- Eye Abnormalities: Problems with vision or the physical structure of the eyes can occur, requiring regular ophthalmologic evaluations.
- Recurrent Infections: A weakened immune response may lead to an increased susceptibility to infections, particularly respiratory ones.
It’s important to note that the presence and severity of these symptoms can vary widely, making genetic testing a valuable tool for accurate diagnosis.
ERCC3 Gene Trichothiodystrophy Genetic Test
The ERCC3 gene plays a critical role in DNA repair processes, and mutations in this gene are directly linked to the development of trichothiodystrophy. The genetic test offered by DNA Labs UAE specifically targets mutations within the ERCC3 gene, providing a definitive diagnosis for affected individuals or carriers of the condition. This test is particularly crucial for families with a history of trichothiodystrophy or those who have children exhibiting symptoms consistent with the disorder.
Test Cost
The cost of the ERCC3 gene trichothiodystrophy genetic test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of an accurate diagnosis cannot be overstated, as it opens the door to targeted management strategies and supportive care that can significantly improve the quality of life for those affected.
Why Choose DNA Labs UAE?
Choosing DNA Labs UAE for genetic testing means entrusting your care to a leader in the field. With a commitment to accuracy, confidentiality, and support, DNA Labs UAE provides comprehensive testing services designed to meet the unique needs of each individual and family. The team of experts at DNA Labs UAE is dedicated to delivering results with precision and care, ensuring that every client receives the information and support they need to navigate their genetic health.
For more information about the ERCC3 gene trichothiodystrophy genetic test and to schedule your appointment, please visit DNA Labs UAE.
In conclusion, the ERCC3 gene trichothiodystrophy genetic test is a vital resource for individuals and families dealing with the challenges of trichothiodystrophy. By providing a clear diagnosis, DNA Labs UAE plays a crucial role in the journey towards understanding and managing this condition. The cost of the test is a valuable investment in health and well-being, offering hope and direction for those affected by trichothiodystrophy.
