Short Description

NGS genetic DNA test detecets for variant and mutation detection in SOST gene for Sclerosteosis type 1

PreTest Information

Clinical History of Patient who is going for SOST Gene Sclerosteosis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SOST Gene Sclerosteosis type 1 NGS Genetic DNA Test gene SOST

Detail Description

SOST Gene and Sclerosteosis Type 1: Understanding the Genetic Disorder

Sclerosteosis type 1 is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the SOST gene, which encodes for a protein called sclerostin. Sclerostin is involved in the regulation of bone density and strength, and mutations in the SOST gene can lead to excessive bone growth and density, resulting in various symptoms and complications.

Symptoms of Sclerosteosis Type 1

The symptoms of sclerosteosis type 1 can vary from person to person, and some individuals may not experience any symptoms at all. However, common symptoms of the disorder include:

• Excessive bone growth and density
• Facial abnormalities, such as a prominent forehead, jaw, and brow ridges
• Abnormalities in the hands and feet, such as clubbing and thickening of the bones
• Hearing loss and other ear abnormalities
• Headaches and vision problems

These symptoms can vary in severity, and some individuals may experience additional complications such as seizures or intellectual disability.

Diagnosis of Sclerosteosis Type 1

Sclerosteosis type 1 is typically diagnosed through a combination of physical exams, medical history evaluations, and genetic testing. Genetic testing can confirm the presence of mutations in the SOST gene, and can help determine the severity of the disorder and potential complications.

NGS genetic DNA testing is a common method used to diagnose genetic disorders like sclerosteosis type 1. This type of testing involves sequencing an individual's DNA to identify any mutations or abnormalities that may be present. NGS testing is highly accurate and can provide detailed information about an individual's genetic makeup.

Cost of Sclerosteosis Type 1 NGS Genetic DNA Test

The cost of a sclerosteosis type 1 NGS genetic DNA test can vary depending on the specific testing facility and the extent of the testing that is performed. However, on average, these tests can cost around INR 20,000.

Conclusion

Sclerosteosis type 1 is a rare genetic disorder that can cause a range of symptoms and complications. Genetic testing can help diagnose the disorder and provide valuable information about an individual's genetic makeup. If you or someone you know is experiencing symptoms of sclerosteosis type 1, it is important to seek medical attention and discuss genetic testing options with a healthcare provider.

At DNA Labs India, we offer comprehensive NGS genetic DNA testing services to help diagnose and manage a range of genetic disorders. Contact us today to learn more about our testing options and how we can help you.