Short Description

NGS genetic DNA test detecets for variant and mutation detection in ERCC6 gene for Cockayne syndrome type B

PreTest Information

Clinical History of Patient who is going for ERCC6 Gene Cockayne syndrome type B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene Cockayne syndrome type B NGS Genetic DNA Test gene ERCC6

Detail Description

ERCC6 Gene Cockayne Syndrome Type B NGS Genetic DNA Test Cost INR 20,000 - Symptoms and Diagnosis

When it comes to genetic disorders, Cockayne syndrome is a rare condition that affects only a small number of people. However, for those who are affected by it, the symptoms can be severe and can have a significant impact on their quality of life. One of the genes that have been linked to Cockayne syndrome is the ERCC6 gene. In this blog post, we will discuss what Cockayne syndrome is, the role of the ERCC6 gene in the condition, and how the NGS genetic DNA test can help in the diagnosis.

What is Cockayne Syndrome?

Cockayne syndrome is a rare genetic disorder that affects the body's ability to repair damaged DNA. This condition is characterized by a variety of symptoms that can vary in severity from person to person. Some of the most common symptoms of Cockayne syndrome include:

• Delayed growth and development
• Neurological problems, such as seizures and hearing loss
• Photosensitivity
• Premature aging
• Eye abnormalities

There are two types of Cockayne syndrome: Type A and Type B. The symptoms of Type B are generally less severe than those of Type A, and individuals with Type B may live into adulthood.

The Role of the ERCC6 Gene in Cockayne Syndrome

The ERCC6 gene is responsible for producing a protein called Cockayne syndrome B protein (CSB). This protein is involved in the repair of damaged DNA, particularly in response to damage caused by ultraviolet (UV) radiation from the sun. Mutations in the ERCC6 gene can lead to a deficiency of CSB protein, which can result in the symptoms of Cockayne syndrome.

NGS Genetic DNA Test for Cockayne Syndrome

The NGS genetic DNA test is a powerful tool that can be used to diagnose Cockayne syndrome. This test involves sequencing the DNA of the patient to look for mutations in the ERCC6 gene. The test can also be used to identify mutations in other genes that may be responsible for the symptoms of Cockayne syndrome.

The cost of the NGS genetic DNA test for Cockayne syndrome is INR 20,000. This test is available at DNA Labs India, a leading provider of genetic testing services in India.

Diagnosis of Cockayne Syndrome

Diagnosing Cockayne syndrome can be challenging, as the symptoms can be similar to those of other conditions. However, a combination of clinical evaluation, genetic testing, and imaging studies can help to confirm the diagnosis.

If you or a loved one are experiencing symptoms of Cockayne syndrome, it is important to seek medical attention as soon as possible. With early diagnosis and appropriate management, individuals with Cockayne syndrome can lead fulfilling lives.

Conclusion

Cockayne syndrome is a rare genetic disorder that can have a significant impact on the lives of those who are affected by it. The ERCC6 gene has been linked to Cockayne syndrome, and the NGS genetic DNA test can help in the diagnosis. If you or a loved one are experiencing symptoms of Cockayne syndrome, it is important to seek medical attention and consider genetic testing to confirm the diagnosis.

At DNA Labs India, we are committed to providing high-quality genetic testing services to our customers. If you have any questions about our NGS genetic DNA test for Cockayne syndrome or any of our other genetic testing services, please don't hesitate to contact us.