As one of the largest medical genetics services in the St. Louis area, Genetics and Genomic Medicine at St. Louis Children’s Hospital provides support for you and your child when a genetic disorder is suspected or when you need to know more about a confirmed genetic disorder.

Nationally ranked hospital partner
National center of excellence in advancing rare disease care
Prompt, comprehensive genetic answers

Our experts have immediate access to three onsite genetics laboratories, allowing them to more quickly get genetic answers.  

We provide care for children and adults with a variety of medical problems, including:

  • Genetic/congenital syndromes, such as fragile X syndrome and 22q (also known as DiGeorge syndrome)
  • Hereditary conditions, such as Marfan syndrome and sickle cell disease
  • Inborn errors of metabolism, a group of genetic diseases in which the body cannot turn food into energy
  • Cytogenetic disorders, or, diseases that affect chromosomes, such as Down syndrome or trisomy 18 or 13
  • Abnormalities of newborn screening tests
  • Familial cancer syndrome, also referred to as hereditary cancer syndrome
  • Genetic disorders that cause neurologic problems
  • Autism and intellectual disability