At Children's Hospital of Philadelphia (CHOP), we recognize genetic testing is complex. The Roberts Individualized Medical Genetic Center's genetic counselors, physicians and financial counselors are available to help families and referring clinicians navigate the pre- and post-testing issues that may arise, such as:

• Identifying the most appropriate genetic test, when necessary
• Reviewing your child's medical history
• Phenotype capture by physical exam and/or 3-D face imaging
• Helping you understand all parts of the process and what consenting to this process means
• Helping you with the insurance approval process
• Reviewing your child's results and providing genetic counseling when requested by the referring clinician
• Providing follow-up testing for additional family members, when necessary

Although the primary goal of our center is to assist with exome and genome sequencing, the Roberts IMGC can also help with most other types of genetic testing, including:

• In-house testing: For genetic testing done at CHOP, Roberts IMGC clinicians will work collaboratively with the Division of Genomic Diagnostics (DGD) to gather essential information that can be used in the analysis and interpretation of patients’ test results.
• Send-out testing: RIMGC clinicians will also assist with complex send-out testing, which may require a more detailed explanation and/or patient consent and/or insurance authorizations.

We also offer the opportunity for all patients to enroll in an ongoing research protocol approved by CHOP’s Institutional Review Board. Research enrollment with the RIMGC allows for gene discovery, translation of genetic discoveries into new therapies and, ultimately, improvements in patient care.