De Sanctis-Cacchione Syndrome is a rare autosomal recessive disorder, which is primarily characterized by photosensitivity, intellectual disability, and neurological abnormalities. It is considered a severe form of xeroderma pigmentosum, a condition that makes skin extremely sensitive to the ultraviolet (UV) rays from sunlight. The syndrome is caused by mutations in the ERCC6 gene, among others, which play a crucial role in DNA repair. Understanding the symptoms of this genetic disorder is crucial for early diagnosis and management. At DNA Labs UAE, we offer a comprehensive genetic test for the ERCC6 gene to help identify De Sanctis-Cacchione Syndrome, with the test priced at 4400 AED. For more information, visit our website at https://dnalabsuae.com/tests/ercc6-gene-de-sanctis-cacchione-syndrome-genetic-test/.
Symptoms of De Sanctis-Cacchione Syndrome
De Sanctis-Cacchione Syndrome manifests through a variety of symptoms, which can vary in severity among affected individuals. Recognizing these symptoms early can be pivotal for the well-being of the patient. Some of the primary symptoms include:
- Photosensitivity: Individuals with this syndrome have a heightened sensitivity to UV rays, leading to severe sunburns, even with minimal sun exposure.
- Intellectual Disability: There is often a marked developmental delay or intellectual disability present from a young age.
- Neurological Abnormalities: These can include microcephaly (small head size), ataxia (lack of muscle coordination), and hearing loss.
- Skin Abnormalities: Skin symptoms may include dryness, pigmentation changes, and a higher propensity for developing skin cancers.
- Growth Retardation: Affected individuals may experience delayed physical development, leading to short stature.
It’s important to note that the presence of these symptoms can vary significantly from one individual to another, making a genetic test crucial for an accurate diagnosis.
ERCC6 Gene De Sanctis-Cacchione Syndrome Genetic Test at DNA Labs UAE
At DNA Labs UAE, we understand the importance of accurate genetic testing for conditions like De Sanctis-Cacchione Syndrome. Our genetic test specifically targeting the ERCC6 gene mutation offers families and individuals the clarity needed for diagnosis and subsequent management of the condition. Priced at 4400 AED, this test is a critical step towards understanding and managing the condition effectively.
The testing process is straightforward and designed with the patient’s convenience in mind. A simple DNA sample, typically obtained from a blood draw or cheek swab, is all that’s required. Our state-of-the-art lab facilities ensure accurate and timely results, empowering patients and their families with the information needed to make informed health decisions.
Early diagnosis through genetic testing can significantly impact the management of De Sanctis-Cacchione Syndrome. It allows for the implementation of preventive measures against sun exposure, tailored educational programs, and specific therapies aimed at managing symptoms. With the support of our expert team at DNA Labs UAE, individuals and families can navigate the challenges of this rare genetic disorder with confidence.
For more detailed information about the ERCC6 gene De Sanctis-Cacchione Syndrome genetic test and to schedule your test, please visit our website at https://dnalabsuae.com/tests/ercc6-gene-de-sanctis-cacchione-syndrome-genetic-test/. Our dedicated team is here to support you every step of the way, from initial consultation to post-test counseling.
