Providing care coordination, counseling, diagnosis and referrals

If a genetic condition runs in your family or your child shows signs of a genetic disorder, UW Health Kids specialists can provide the help you need.

We work with you and your family to understand and manage a birth abnormality, genetic condition or metabolic disorder.

Programs and research

Advanced pediatric genetics programs, counseling and research

There are many types of genetic conditions. UW Health Kids offers extensive services for you and your family, including:

We treat children with aminoacidopathies such as phenylketonuria (PKU), organic acidemias and defects of fatty acid metabolism.

Our lab performs testing for biochemical disorders that affect metabolism. Learn more

We offer team-based diagnosis, treatment and long-term care for children and young adults with neurocutaneous syndromes

We evaluate and treat infants and children with global developmental delays.

Our team provides diagnosis, counseling and management of genetic disorders, congenital anomalies and evaluation of complex genetic processes. We work with children with chromosomal disorders, connective tissue disorders and multiple congenital anomaly syndromes.

We treat children with Fabry disease, Gaucher disease and Pompe disease.

We diagnose, manage and coordinate care for children with bone growth conditions such as achondroplasis, spondyloepiphyseal dysplasia and osteogenesis imperfecta.

Improving genetics understanding through research 

Our genetic scientists work to improve care for your child. We research the causes of developmental disabilities and new treatments and interventions. We help children and adults with disabilities learn, live, work and enjoy their lives in their communities. Learn more

Meet our team

A specialized team by your side

The UW Health Kids genetics team includes experts in clinical genetics, developmental pediatrics and nutrition.

Our providers
Smiling child with sign reading UW Health Kids
UW Health Kids
Our pediatric experts have served the special needs of children for more than 100 years. We focus on each child’s unique needs and offer social and emotional support to help you and your child face even the most complex condition. Our long history includes the creation of medical advances that save lives around the world. Together, we get your child back to health and enjoying being a kid.

Conditions and treatments

Conditions and advanced treatments

At UW Health, we evaluate and treat a wide range of pediatric genetic conditions, including:

  • Achondroplasia

  • Bone dysplasia

  • Clefting

  • Cystic fibrosis

  • Down syndrome

  • Ehlers-Danlos syndrome

  • Gaucher disease

  • Marfan syndrome

  • Organic acidemias

  • Osteogenesis imprefecta

  • Phenylketonuria

  • Prader-Willi syndrome

  • Sensory deficits

Our pediatric genetics team works closely with your child and family. We provide extensive services and treatments, including: 

  • Cancer genetics analysis

  • Consultation for familial cancer syndromes

  • Diagnosis and detection of genetic disorders and diseases in infants, children and young adults

  • Diagnosis and management for skeletal dysplasia

  • Evaluation of birth abnormalities and follow-up of newborn screenings

  • Evaluation and testing for biochemical disorders that affect metabolism

  • Genetic counseling and guidance

  • Pregnancy-related consultation

What to expect at your clinic appointment 

When you come to the pediatric genetics clinic at UW Health, you receive advanced care and services. We work with you to make sure your child lives the best life possible.

Before your appointment, we collect information about you and your child, including:

  • Family history, medical history and developmental history

  • Medical records, test results, therapy evaluations and school records

  • Personal health history for you and your spouse 

  • Three-generation family medical history for you, your child, your siblings and their children, and your parents’ generation

  • Your child’s developmental milestones

You can expect your appointment to last about an hour. Our genetics team will discuss your family’s genetic history and any test results. We perform genetic tests to study the genes, chromosomes and other molecular properties of your child’s and your DNA. We may order more tests or visits with other specialists.

Our goal is to use all of the information we have to make a diagnosis. We will discuss your child’s diagnosis with you and answer your questions. We’ll talk about:

  • Available educational and support resources

  • Available treatments and other necessary medical management

  • Natural progression of the disease 

  • Pattern of inheritance and implications for other family members

  • Prenatal diagnostic options

  • Recurrence risks for future children and other family members

After your clinic visit, you receive a letter that summarizes all of our findings and recommendations. 

If we cannot make a diagnosis right away, we’ll schedule follow-up visits as more information becomes available.

Patient resources

Information about genes and genetic disorders

Our UW Health Kids genetics team recommends knowing as much as you can about genetic conditions. Learn more


Expert care close to you

We offer specialized pediatric genetics care at UW Health clinics in Madison, Green Bay and Marshfield.