Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC6 gene for UV-sensitive syndrome type 1

PreTest 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

Detail Description

ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic DNA Test: Cost, Symptoms, and Diagnosis

UV-sensitive syndrome type 1 is a rare genetic disorder that affects the body's ability to repair DNA damage caused by exposure to ultraviolet (UV) light from the sun. This disorder is caused by mutations in the ERCC6 gene, which provides instructions for making a protein that is involved in repairing damaged DNA.

Symptoms of UV-sensitive syndrome type 1

The symptoms of UV-sensitive syndrome type 1 can vary widely from person to person, but some common symptoms include:

• Increased sensitivity to sunlight
• Development of skin lesions or rashes after exposure to sunlight
• Increased risk of skin cancer
• Eye problems, such as cataracts and vision loss
• Neurological problems, such as hearing loss, ataxia, and intellectual disability

Diagnosis of UV-sensitive syndrome type 1

Diagnosis of UV-sensitive syndrome type 1 usually involves a combination of physical exams, medical history, and genetic testing. A doctor may perform a skin biopsy to examine the skin cells for signs of DNA damage. Genetic testing can identify mutations in the ERCC6 gene that are associated with UV-sensitive syndrome type 1.

NGS Genetic DNA Test for ERCC6 Gene UV-sensitive syndrome type 1

The NGS Genetic DNA Test for ERCC6 Gene UV-sensitive syndrome type 1 is a genetic test that uses next-generation sequencing (NGS) technology to analyze the DNA sequence of the ERCC6 gene. This test can identify mutations in the ERCC6 gene that are associated with UV-sensitive syndrome type 1.

Cost of NGS Genetic DNA Test for ERCC6 Gene UV-sensitive syndrome type 1

The cost of the NGS Genetic DNA Test for ERCC6 Gene UV-sensitive syndrome type 1 can vary depending on the laboratory and geographic location. In India, the cost of this test is typically around INR 20,000.

Conclusion

UV-sensitive syndrome type 1 is a rare genetic disorder that affects the body's ability to repair DNA damage caused by exposure to UV light. Symptoms of this disorder can vary widely, but may include increased sensitivity to sunlight, skin lesions, and neurological problems. Diagnosis of UV-sensitive syndrome type 1 usually involves a combination of physical exams, medical history, and genetic testing. The NGS Genetic DNA Test for ERCC6 Gene UV-sensitive syndrome type 1 is a genetic test that can identify mutations in the ERCC6 gene that are associated with this disorder. The cost of this test in India is typically around INR 20,000.

It is important to consult with a healthcare provider if you suspect you or a loved one may have UV-sensitive syndrome type 1 or any other genetic disorder.

For more information about genetic testing and DNA labs in India, visit DNA Labs India.