Roberts Individualized Medical Genetics Center (IMGC)

Children’s Hospital of Philadelphia (CHOP) is a world leader in pediatric genetics research, diagnosis and treatment of very rare genetic diseases. The Hospital’s researchers and clinicians are committed to using their knowledge of the genetic origins of disease to inform and improve patient care.

About the Center

The Roberts IMGC supports clinicians interested in pursuing complex genetic testing for their patients who likely have a genetic cause for their presenting features.

The Roberts IMGC has genetic counselors, physicians and financial counselors on staff and available on call to help referring clinicians and families navigate the pre- and post-testing complexities of genetic testing, including:

  • Identification of the most appropriate genetic test, when necessary
  • Review of medical history
  • Phenotype capture by physical exam and/or 3-D face imaging
  • Informed patient education and consent
  • Results review/genetic counseling when requested by the referring clinician
  • Follow-up testing for additional family members, when necessary

Although the primary goal is to assist with exome and genome sequencing, the Roberts IMGC can also assist with most genetic testing.

  • 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 useful in the analysis and interpretation of your patients’ test results.
  • Send-out testing: Roberts IMGC clinicians will also be available to assist with complex send-out testing, which may require a more detailed explanation and/or patient consent and/or insurance authorizations.

Available Tests

The Roberts IMGC can assist with many types of genetic tests, including:

  • Genome-wide chromosomal microarray analysis (SNP-based) to detect chromosomal abnormalities
  • Targeted FISH or MLPA testing for specific microdeletion/microduplication syndromes
  • Single gene testing based on clinical indication
  • Gene panels for clinical findings that have multiple genetic causes
  • Exome sequencing
  • Genome sequencing

Featured Faculty

Ian Krantz, MDIan Krantz, MD

Ian Krantz, MD is the Co-director of the Roberts Individualized Medical Genetics Center and an Attending Physician in the Division of Genetics.

Areas of Expertise: genomic diagnostics, Alagille syndrome, clinical genetics and dysmorphology, Cornelia de Lange syndrome, the genetics of hearing loss

Livija Medne, MS CGCLivija Medne, MS CGC

Livija Medne is a Senior Genetic Counselor and is Co-director of the Roberts Individualized Medical Genetics Center.

Areas of Expertise: undiagnosed neuromuscular disorders

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