Services & Specialties
Human Genetics

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Get clear answers and expert care for complex and rare genetic conditions from a team dedicated to your child’s whole health.
Patient Jaxson Douglas posing for photos with his family at Liberty Campus. Jaxson has CHARGE syndrome. Mother is Donia Shirley and father is Brian Douglas.

Expert Genetic Evaluation and Testing for Complex and Rare Conditions

When your child has unexplained symptoms or a new diagnosis, it can feel overwhelming. You may have more questions than answers. Our Division of Human Genetics helps families understand what is happening and what comes next.

We care for children with developmental delay, intellectual disability, autism, neurofibromatosis (NF), metabolic diseases and growth disorders. Our team combines advanced genetic testing with thoughtful counseling and long-term care planning. We focus on clear communication, practical guidance and hope for the future.

Why Choose Human Genetics at Cincinnati Children's?

  • Innovative research and advanced genetic testing that may not be available elsewhere in the region, including genome testing options for eligible patients.
  • Team-based care with providers from many areas so your child can see the right specialists in a coordinated visit.
  • Personalized care plans built around your child’s medical history, genetic results and family goals.
  • Whole-child care that supports medical, developmental and emotional needs.

Division of Human Genetics Expertise and Services

Access to Advanced Testing and Research

Our team offers leading-edge genetic testing, including targeted panels, exome and genome testing. For some families, research programs provide access to testing that insurance may not cover. We are committed to helping children with complex or undiagnosed conditions get the clarity they need.

Because we are active in clinical research, we bring new discoveries directly into patient care. This means your child may benefit from the latest discoveries in real time.

Coordinated Care Across Specialties

Genetic conditions often affect more than one part of the body. That’s why we work closely with specialists in dermatology, ophthalmology, cardiology, oncology, endocrinology and orthopaedics.

Before your child is scheduled, each referral is reviewed by experienced genetic counselors with oversight from clinical geneticists. This team review ensures your child sees the right provider from the start. This approach helps families reach a diagnosis sooner and leave with a clear plan for next steps.

Personalized Plans for Lifelong Support

Every child’s genetic story is unique. We build care plans based on test results, symptoms and your family’s goals. Our genetic counselors provide clear explanations at diagnosis and ongoing guidance as your child grows.

Convenient Access to Expert Care

We offer multiple clinic locations and telehealth visits for select appointments. This helps reduce travel and keeps follow-up care simple. Each year, our division cares for more than 7,000 patients from across the region and beyond.

Whether your child needs a clear diagnosis, ongoing management or a second opinion, our team is here to guide you with knowledge, compassion and respect.