For Our Colleagues at ASHG

For healthcare professionals

Department of Pathology and Laboratory Medicine Test Directory

The Department of Pathology and Laboratory Medicine at Children’s Hospital of Philadelphia (CHOP) uses state-of-the-art technology to provide comprehensive diagnostic services to clinicians, hospitals and outside laboratories. Our work helps ensure children everywhere lead healthier lives.

CHOP Online Pediatric Education Network (OPEN)

CHOP OPEN provides pediatric medical education to healthcare professionals from around the world. Register to access free online lectures, including 50+ presentations in hematology-oncology and hundreds more in various pediatric subspecialties.

Highlighted programs and services

Center for Precision Medicine for High-Risk Pediatric Cancer

The Center for Precision Medicine for High-Risk Pediatric Cancer is a unified “single stop” for children, adolescents and young adults whose cancers lack an effective standard of care, fail to respond to standard therapy or relapse after initial therapy.

Division of Genomic Diagnostics (DGD)

The Division of Genomic Diagnostics (DGD) provides a wide spectrum of testing for genetic conditions, cancer diagnosis and treatment, and histocompatibility and immunogenetics. Our testing ranges from genome wide analyses, such as cytogenetics, chromosomal microarray analysis and exome sequencing to more targeted testing, including HLA typing, fluorescence in situ hybridization (FISH), gene panels and single gene testing.

Epilepsy Neurogenetics Initiative (ENGIN) 

The Epilepsy Neurogenetics Initiative (ENGIN) at CHOP integrates genetic testing into the diagnosis and treatment of children with difficult-to-treat or unexplained epilepsies, and provides access to expert care for children with genetic epilepsy syndromes and other genetic neurodevelopmental disorders.

Immune Dysregulation Program

In children with immune dysregulation disorders, the immune system causes multi-system disease with diverse features. Hyperinflammation, autoimmunity and infections can be manifestations of the child's immune disorder. The Immune Dysregulation Program provides a single place where families can turn for advanced diagnostics of suspected immune disorders and personalized treatments targeting the unique cause of their child’s symptoms.

Mitochondrial Medicine

Mitochondrial Medicine at CHOP is emerging as the premiere center in the world for multidisciplinary clinical care, advanced diagnostics and therapies, and individualized basic, translational, and clinical research programs dedicated to improving the health of patients of all ages living with mitochondrial disease.

Rare Lung Diseases Center

Each of the estimated 200 rare lung diseases affect only a small number of children. Collectively, however, they impact many children. The Rare Lung Diseases Center at CHOP was created to help these children lead a fuller and longer life.

Roberts Individualized Medical Genetics Center (IMGC)

The mission of the Roberts IMGC, the first pediatric individualized genomic program in the country, remains the same: to facilitate access to state-of–the-art individualized genetic testing and management for children, families and clinicians, and to promote integration of clinical and genomic information into the diagnostic and research efforts at Children’s Hospital of Philadelphia (CHOP).

Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Program

Infants and children who have inflammatory bowel disease (IBD) from a very young age (younger than 5 years old) often have different symptoms than older children and adults with IBD. They also sometimes do not respond to traditional treatments for IBD. These children, who have what’s known as very early onset IBD (VEO-IBD), require specialized evaluation and targeted treatments at our VEO-IBD Program. 

Additional resources

Children's Hospital of Philadelphia Research Institute

For a century, Children’s Hospital of Philadelphia Research Institute has advanced breakthrough treatments and innovations that have changed lives and pushed pediatric scientific knowledge forward. It’s truly amazing what an elite scientific research institution can accomplish with an engaged professional community, the shared resources on a premier academic campus, and the commitment to excellence at a world-renowned children’s hospital. From laboratory discoveries, to new public policies, to health gains, we want to give every child the best opportunity for a bright future.

Frontier Programs

A trailblazing group of initiatives known as Frontier Programs are continuing to pioneer new advances in children’s health at an astonishing pace. Frontier Programs conduct visionary research that translates to cutting-edge clinical care.