Genetic testing is not a single test but rather represents many different types of tests that look for various DNA changes and can be very complex. Genetic testing is becoming more frequently used to identify causes of numerous medical conditions. It can be very beneficial for your child and your family members to identify the underlying cause of a condition in your family, to achieve a diagnosis, to provide prognostic information, to help guide management and treatment, and provide recurrence risks. Genetics and genomics are constantly evolving fields with scientists making new discoveries every day. Therefore, the clinically available tests are also changing over time. For this reason, it is important to continue to follow-up with your genetics healthcare professional.

This information will be reviewed and further discussed with you during your appointment with specific focus on the testing recommended for you or your child based.

The Roberts Individualized Medical Genetics Center coordinates a range of genetic testing and helps families understand these. The Children’s Hospital of Philadelphia also has financial counselors available to help families navigate the insurance process.

We hope this information has helped to provide you with a basic background in genetics and genetic testing!