ERCC6 Gene UV-sensitive syndrome type 1 Genetic Test

Components

• Test Name: ERCC6 Gene UV-sensitive syndrome type 1 Genetic Test
• Price: 4400.0 AED
• Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
• Report Delivery: 3 to 4 Weeks
• Method: NGS Technology
• Test type: Osteology Dermatology Immunology Disorders
• Doctor: Dermatologist
• Test Department: Genetics
• Pre Test Information: Clinical History of Patient who is going for ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic DNA Test gene ERCC6

Test Details

The ERCC6 gene is responsible for providing instructions for making a protein called DNA excision repair protein ERCC-6. This protein is involved in repairing damaged DNA, particularly in the process of nucleotide excision repair (NER). NER is a mechanism that fixes DNA damage caused by ultraviolet (UV) radiation and certain chemicals.

UV-sensitive syndrome type 1 (UVSS1) is a rare genetic disorder caused by mutations in the ERCC6 gene. Individuals with UVSS1 have increased sensitivity to UV radiation, leading to severe sunburns, blistering, and an increased risk of developing skin cancer. They may also experience neurological abnormalities, developmental delays, and intellectual disabilities.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze the DNA sequence of an individual’s genes. It can detect mutations or variations in the ERCC6 gene that may be responsible for UVSS1. This test involves sequencing the entire coding region of the gene to identify any changes or abnormalities.

NGS genetic testing for UVSS1 can help diagnose individuals with suspected UVSS1 based on their symptoms and family history. It can also be used for carrier testing in families with a known ERCC6 gene mutation to determine the risk of passing the condition to future generations.

It’s important to note that UVSS1 is a rare genetic disorder, and NGS testing for this specific condition may not be widely available. Genetic testing should be performed by healthcare professionals or genetic counselors who can interpret the results and provide appropriate counseling and support.

UV-sensitive syndrome is a rare disorder that primarily affects the skin. Individuals with this condition are highly sensitive to ultraviolet (UV) rays from sunlight, leading to abnormal skin reactions. This condition is primarily caused by mutations in the ERCC6 gene, among others, which play a crucial role in DNA repair processes. Understanding the symptoms of ERCC6 Gene UV-Sensitive Syndrome Type 1 is critical for early diagnosis and management. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the ERCC6 gene, helping individuals and families understand their risk for this condition.

Symptoms of ERCC6 Gene UV-Sensitive Syndrome Type 1

The symptoms of UV-sensitive syndrome type 1 due to mutations in the ERCC6 gene can vary among affected individuals but typically include:

• Sensitivity to Sunlight: One of the hallmark symptoms of this condition is an increased sensitivity to the UV rays in sunlight. This can lead to sunburns, even with minimal sun exposure.
• Skin Pigmentation Changes: Affected individuals may notice changes in skin pigmentation, including areas of increased or decreased pigmentation following sun exposure.
• Freckling: An increase in freckling on sun-exposed areas of the skin is commonly observed.
• Dry Skin: The skin may become dry and exhibit a rough texture.
• Premature Aging of the Skin: There may be signs of premature aging of the skin in sun-exposed areas, including wrinkles and loss of elasticity.

While the primary manifestations of UV-sensitive syndrome type 1 are skin-related, it is important to note that the condition results from a defect in the body’s ability to repair DNA damage caused by UV radiation. This underlying issue can potentially lead to an increased risk of developing skin cancers, making early diagnosis and management crucial.

Genetic Test for ERCC6 Gene UV-Sensitive Syndrome Type 1

DNA Labs UAE offers a comprehensive genetic test for UV-sensitive syndrome type 1 caused by mutations in the ERCC6 gene. This test is a valuable tool for individuals with a family history of the condition or those exhibiting symptoms. The genetic test involves analyzing the DNA to identify mutations in the ERCC6 gene that are responsible for the condition. Early identification of these mutations can facilitate better management strategies and preventative measures to protect the skin from UV damage.

The cost of the ERCC6 Gene UV-Sensitive Syndrome Type 1 Genetic Test is 4400 AED. This investment in your health provides critical information that can guide lifestyle adjustments, medical management, and preventive measures to mitigate the effects of the condition.

For more information about the ERCC6 Gene UV-Sensitive Syndrome Type 1 Genetic Test and to schedule your test, please visit DNA Labs UAE.

Understanding your genetic makeup is a powerful step towards managing your health proactively. With the insights provided by the ERCC6 Gene UV-Sensitive Syndrome Type 1 Genetic Test, individuals and families can make informed decisions about sun exposure, skin care, and overall health management. DNA Labs UAE is committed to providing accurate, reliable genetic testing services to help you navigate your health journey with confidence.