Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDE4D gene for Acrodysostosis 2

PreTest Information

Clinical History of Patient who is going for PDE4D Gene Acrodysostosis 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PDE4D Gene Acrodysostosis 2 NGS Genetic DNA Test gene PDE4D

Detail Description

PDE4D Gene Acrodysostosis 2 NGS Genetic DNA Test

Acrodysostosis 2 is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the PDE4D gene, which is responsible for producing an enzyme that regulates the activity of certain hormones in the body.

The symptoms of Acrodysostosis 2 can vary widely from person to person, but typically include short stature, short fingers and toes, and other skeletal abnormalities. In addition, some people with this condition may experience intellectual disability, hearing loss, and other health problems.

Diagnosis

Diagnosing Acrodysostosis 2 can be challenging, as the symptoms can be similar to those of other conditions. However, genetic testing can help confirm a diagnosis by identifying mutations in the PDE4D gene. This is typically done using a technique called next-generation sequencing (NGS), which allows for rapid and accurate analysis of DNA sequences.

Cost

The cost of a PDE4D gene Acrodysostosis 2 NGS genetic DNA test in India is typically around INR 20,000. However, this can vary depending on the specific testing facility and other factors.

Conclusion

If you or a loved one are experiencing symptoms of Acrodysostosis 2, it is important to seek medical attention and consider genetic testing. This can help provide a definitive diagnosis and allow for appropriate treatment and management of the condition.

At DNA Labs India, we offer a range of genetic testing services, including NGS testing for Acrodysostosis 2 and other conditions. Our team of experienced professionals is dedicated to providing accurate and reliable testing results at an affordable cost. Contact us today to learn more about our services and how we can help.