Short Description

NGS genetic DNA test detecets for variant and mutation detection in SRCAP gene for Floating-Harbor syndrome

PreTest Information

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

Detail Description

Understanding SRCAP Gene and Floating-Harbor Syndrome: NGS Genetic DNA Test Cost INR 20,000

Floating-Harbor Syndrome (FHS) is a rare genetic disorder that affects skeletal growth, speech development, and intellectual ability. The condition is caused by mutations in the SRCAP gene, which provides instructions for making a protein that plays a vital role in regulating gene expression and protein formation in the body.

Symptoms of Floating-Harbor Syndrome

The symptoms of FHS can vary widely, even among individuals who share the same genetic mutation. Some common signs of the condition include:

• Short stature and delayed bone growth
• Delayed speech development and communication difficulties
• Facial features that are distinct from those of unaffected family members, including a small chin, deep-set eyes, and a wide mouth
• Intellectual disability or learning difficulties, which may be mild or severe
• Other physical abnormalities, such as a cleft palate or hearing loss

Diagnosis of Floating-Harbor Syndrome

Diagnosing FHS can be challenging, as the symptoms can be similar to those of other genetic disorders. However, genetic testing can help confirm a diagnosis of FHS. The most common test used is Next Generation Sequencing (NGS), which analyzes the entire SRCAP gene to identify any mutations or abnormalities.

NGS Genetic DNA Test Cost

The cost of NGS genetic testing for FHS can vary depending on the testing facility and the specific tests ordered. At DNA Labs India, we offer NGS genetic testing for FHS at a cost of INR 20,000. This test includes a comprehensive analysis of the SRCAP gene to identify any mutations that may be present.

Conclusion

If you or a loved one are experiencing symptoms of FHS, genetic testing can provide valuable information about the underlying cause of the condition. At DNA Labs India, we offer high-quality NGS genetic testing for FHS at an affordable cost. Contact us today to learn more about this test and how it can help you.