Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASXL3 gene for Bainbridge-Ropers syndrome

PreTest Information

Clinical History of Patient who is going for ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic DNA Test gene ASXL3

Detail Description

ASXL3 Gene Bainbridge-Ropers Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Bainbridge-Ropers Syndrome (BRS) is a rare genetic disorder that affects the development and function of the brain. It is caused by mutations in the ASXL3 gene, which provides instructions for making a protein that is involved in the regulation of gene expression. BRS is characterized by developmental delay, intellectual disability, speech and language difficulties, and distinctive facial features.

Symptoms

The symptoms of BRS can vary widely, but some common features include:

• Developmental delay
• Intellectual disability
• Speech and language difficulties
• Distinctive facial features, including a prominent forehead, wide-set eyes, and a small chin
• Behavioral problems, such as hyperactivity and aggression

Diagnosis

BRS is typically diagnosed through a combination of clinical evaluation, medical history, and genetic testing. A genetic test can identify mutations in the ASXL3 gene that are associated with BRS. This test can be performed using next-generation sequencing (NGS) technology, which can analyze multiple genes simultaneously and provide more comprehensive results.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for BRS can vary depending on the testing facility and location. At DNA Labs India, the cost of an NGS genetic DNA test for BRS is INR 20,000.

Conclusion

Bainbridge-Ropers Syndrome is a rare genetic disorder that can have a significant impact on an individual's development and quality of life. Early diagnosis and intervention can help to improve outcomes for individuals with BRS. If you suspect that you or a loved one may have BRS, speak with a healthcare provider about genetic testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for BRS. Our team of experienced professionals is dedicated to providing accurate and reliable results to help you make informed decisions about your health. Contact us today to learn more about our services and how we can help you.