Xeroderma Pigmentosum (XP) is a rare genetic disorder that significantly increases the risk of skin cancer due to an inability to repair DNA damage caused by ultraviolet (UV) light. Among the eight known complementation groups of XP, Group D is particularly associated with mutations in the ERCC2 gene. At DNA Labs UAE, we offer a comprehensive genetic test for the ERCC2 gene to help identify individuals at risk of Xeroderma Pigmentosum Group D. This test is crucial for early diagnosis and taking preventive measures against skin damage and cancer.
Symptoms of ERCC2 Gene Xeroderma Pigmentosum Group D
The symptoms of Xeroderma Pigmentosum Group D, caused by mutations in the ERCC2 gene, can vary widely among individuals but generally include an extreme sensitivity to UV rays from sunlight. The following are some of the common symptoms:
- Sun Sensitivity: One of the earliest and most noticeable symptoms is an extreme sensitivity to the sun. Even minimal exposure can cause severe sunburns, blistering, and skin erosions.
- Pigmentation Changes: Individuals may notice changes in skin pigmentation, including freckling, hypo, and hyperpigmentation, particularly in areas exposed to the sun.
- Premature Skin Aging: The skin of affected individuals may appear prematurely aged with wrinkles, dryness, and changes in texture.
- Skin Lesions: There is a high risk of developing precancerous lesions and skin cancers at a very young age, often in sun-exposed areas.
- Eye Disorders: Eye problems, including sensitivity to light (photophobia), conjunctivitis, and keratitis, can occur due to UV exposure.
- Neurological Abnormalities: In some cases, neurological abnormalities such as hearing loss, poor coordination, and developmental delays may be present.
It’s important to note that the severity of symptoms can vary, and not all individuals with a mutation in the ERCC2 gene will experience all these symptoms.
ERCC2 Gene Xeroderma Pigmentosum Group D Genetic Test
At DNA Labs UAE, we offer a genetic test specifically designed to detect mutations in the ERCC2 gene associated with Xeroderma Pigmentosum Group D. This test is a vital tool for early diagnosis, allowing for the implementation of protective measures to minimize UV damage and reduce the risk of skin cancer. The test involves a simple blood sample or buccal swab and is conducted in our state-of-the-art laboratory facilities.
The cost of the ERCC2 Gene Xeroderma Pigmentosum Group D Genetic Test is 4400 AED. While the cost may seem significant, early detection and the ability to take preventive measures can be invaluable for affected individuals and their families.
For more information about the test and to schedule your appointment, please visit our website at https://dnalabsuae.com/tests/ercc2-gene-xeroderma-pigmentosum-group-d-genetic-test/.
Early diagnosis and intervention are key to managing Xeroderma Pigmentosum Group D. By understanding the symptoms and taking advantage of the genetic testing available, individuals and their families can navigate the challenges of this condition with informed decisions and appropriate care.
