Pediatric Genetics and Metabolism

Genetics and metabolism specialists at UW Health in Madison, Wisconsin, help individuals and their families to understand and cope with genetic conditions, birth defects and other disorders. Our services include diagnosis, counseling, care coordination and referral.


  • Consultation and genetic counseling
  • Evaluation of birth defects and follow-up of newborn screening
  • Evaluation and testing for biochemical disorders (inborn errors of metabolism)
  • Diagnosis and detection of genetic disorders and diseases in infants, children and adults
  • Diagnosis and management of skeletal dysplasia (bone growth disorders)
  • Consultation for familial cancer syndromes
  • Pregnancy-related consultation