Short Description

NGS genetic DNA test detecets for variant and mutation detection in SOX18 gene for Hypotrichosis-lymphedema-telangiectasia syndrome

PreTest Information

Clinical History of Patient who is going for SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic DNA Test gene SOX18

Detail Description

SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic DNA Test

SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome (HTLS) is a rare genetic disorder that affects the growth and development of the hair, skin, and lymphatic system. It is caused by mutations in the SOX18 gene, which provides instructions for making a protein that plays a critical role in the development of these systems.

The symptoms of HTLS include sparse hair, lymphedema (swelling caused by a buildup of lymph fluid), and telangiectasia (small, dilated blood vessels near the surface of the skin). These symptoms usually appear in infancy or early childhood and can vary in severity from person to person.

Diagnosis

Diagnosing HTLS can be challenging, as it is a rare disorder and its symptoms can be similar to those of other conditions. A diagnosis is usually based on a combination of clinical features and genetic testing.

The genetic testing for HTLS involves sequencing the SOX18 gene to identify any mutations that may be causing the disorder. Next-generation sequencing (NGS) is a powerful tool that allows for the rapid and accurate sequencing of the entire gene, making it an ideal method for diagnosing HTLS.

Cost of NGS Genetic DNA Test

The cost of an NGS genetic DNA test for HTLS at DNA Labs India is INR 20,000. This includes the cost of the test itself, as well as any consultation fees that may be associated with the testing process. The cost may vary depending on the specific testing requirements and any additional services that may be needed.

Conclusion

HTLS is a rare genetic disorder that can be difficult to diagnose. Genetic testing, such as NGS, is an important tool in identifying the underlying genetic mutations that may be causing the disorder. At DNA Labs India, we offer NGS genetic DNA testing for HTLS at an affordable cost, providing patients and their families with the answers they need to better understand and manage their condition.

If you or a loved one is experiencing symptoms of HTLS, we encourage you to reach out to us to learn more about our testing services and how we can help.

Contact us today to schedule a consultation and take the first step towards a better understanding of your genetic health.