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Division of Human Genetics

Division of Human Genetics

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Appointments and referrals
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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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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.

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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.

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Our locations

You can visit staff from the Division of Human Genetics at two locations on our Philadelphia campus.

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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.

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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

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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.

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