Short Description

NGS genetic DNA test detecets for variant and mutation detection in SALL1 gene for Townes-Brocks syndrome

PreTest Information

Clinical History of Patient who is going for SALL1 Gene Townes-Brocks syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SALL1 Gene Townes-Brocks syndrome NGS Genetic DNA Test gene SALL1

Detail Description

SALL1 Gene and Townes-Brocks Syndrome

Have you ever heard of Townes-Brocks Syndrome? It is a rare genetic disorder that affects multiple parts of the body. Townes-Brocks Syndrome is caused by mutations in the SALL1 gene, which provides instructions for making a protein that plays a role in the development of various organs and tissues in the body.

Symptoms of Townes-Brocks Syndrome

The symptoms of Townes-Brocks Syndrome can vary greatly from person to person. However, some common symptoms include:

• Anal abnormalities
• Abnormalities of the ears
• Abnormalities of the hands and/or feet
• Heart defects
• Kidney abnormalities
• Hearing loss
• Abnormalities of the eyes

Diagnosis of Townes-Brocks Syndrome

Diagnosis of Townes-Brocks Syndrome can be difficult, as it is a rare genetic disorder. However, genetic testing can be used to confirm a diagnosis. Specifically, a Next-Generation Sequencing (NGS) genetic DNA test can be used to analyze the SALL1 gene and identify any mutations. This test is highly accurate and can provide a definitive diagnosis.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for Townes-Brocks Syndrome is INR 20,000. This cost may vary depending on the testing facility and location.

Conclusion

Townes-Brocks Syndrome is a rare genetic disorder that can cause a variety of symptoms. Genetic testing, specifically NGS genetic DNA testing of the SALL1 gene, can be used to confirm a diagnosis. If you or a loved one is experiencing symptoms of Townes-Brocks Syndrome, it is important to speak with a healthcare professional and consider genetic testing.