Division of Human Genetics
Whether your child has been diagnosed with a genetic disorder – or is suspected of having one – Children’s Hospital of Philadelphia (CHOP) is here to help.
Our Division of Human Genetics provides comprehensive diagnostic testing, genetic counseling, individualized treatment and ongoing care management for children with a wide variety of genetic diseases and pediatric disorders.
We offer the most complete array of human genetics services in the Delaware Valley for children and their families. Our division includes a Clinical Genetics section and two full-service, state-of-the-art testing laboratories.
We specialize in finding answers for families facing complex and hard-to-diagnose conditions. We work with researchers to improve testing, treatment options and outcomes. And we remain committed to better understanding the genetic basis for all pediatric disorders.
How we serve you
Our Division of Human Genetics offers a variety of programs and services to support children with genetic conditions and help families access the full range of resources available at Children’s Hospital of Philadelphia (CHOP).
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22q and You Center -
Beckwith-Wiedemann Syndrome Clinic -
Cardiovascular Connective Tissue Disorders Clinic -
Center for CdLS and Related Diagnoses -
Omics Initiative -
Clinical Genetics -
CDG Clinic -
Gene Therapy for IEMs -
Lysosomal Storage Disease Center -
Metabolic Disease Program -
Mitochondrial Medicine Program -
Newborn Metabolic Screening Program -
Roberts IMGC -
Skraban-Deardorff Syndrome Clinic -
ACE for Williams Syndrome -
Undiagnosed Disease Program
Conditions we evaluate
Our Division of Human Genetics evaluates children with a variety of genetic conditions – including those listed below – and refers patients to specific programs at CHOP to best address their needs.
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22q11.2 deletion and duplication syndromes -
Acromegaly -
Alagille syndrome -
Beckwith-Wiedemann syndrome -
Chronic granulomatous disease (CGD) -
Congenital disorders of glycosylation (CDG) -
Congenital heart disease (CHD) -
Cornelia de Lange syndrome -
Dravet syndrome -
Epidermolysis bullosa -
Friedreich's ataxia -
Genetic cervical spine conditions -
Gigantism -
Hemihyperplasia -
KCNB1-related disorders -
KCNC1-related disorders -
KCNQ2-related epilepsies -
Mitochondrial disease -
Mucopolysaccharidosis type 1 (MPS 1) -
Mucopolysaccharidosis type II (MPS II) -
Noonan syndrome -
Pallister-Killian syndrome -
PCDH19-epilepsy -
PTEN hamartoma tumor syndrome -
SCN2A-related disorders -
SCN3A-related neurodevelopmental disorders -
SCN8A-related epilepsy -
Skraban-Deardorff syndrome -
Spondyloepiphyseal dysplasia congenita -
STXBP1-related disorders -
Wiskott-Aldrich syndrome (WAS) -
WT1-related Wilms tumor syndromes
Why choose CHOP for genetic testing
Genetic testing is complex. Our genetic counselors, physicians and financial counselors are available to help families navigate any pre- and post-testing questions that may arise.
Meet your team
Our team of attending physicians, genetic counselors, nurses and dietitians work with a variety of departments at CHOP to ensure a continuity of care and individualized treatment for children with genetic conditions.
Our locations
You can visit staff from the Division of Human Genetics at two locations on our Philadelphia campus.
Our research
Our research focuses on identifying and understanding the genetic basis of pediatric disease, discovering the natural history of genetic diseases from birth through adulthood, and developing novel therapeutic approaches to improve a child's health.
Our resources
Caring for a sick child can be overwhelming. To help you find answers to your questions and feel more confident in the care you are providing your child, we’ve created the following health resources.
Patient stories
Events
The Beckwith-Wiedemann Spectrum Symposium: Bridging Research and Care
Friday, Jul 18, 2025
Understanding genomics and genetic testing
This educational module is designed to help you understand the basics of genomics and how changes in our genetic makeup can lead to various medical conditions. You’ll also learn about some common types of genetic testing that may be recommended by your doctor or genetic counselor.
View our test database
We use state-of-the-art technology to provide comprehensive diagnostic services. Our work helps ensure children everywhere lead healthier lives.
Your donation changes lives
Philanthropic donations to the Division of Human Genetics fuel breakthrough discoveries and lead to new treatments for children.
