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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.

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

Our team treats a wide variety of genetic diseases, including:

  • Genetic/congenital syndromes, such as fragile X syndrome and 22q (also known as DiGeorge syndrome and 22q11.2 deletion 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

  • Mental retardation

Specialty Genetic Services

We offer the following specialty services and clinics to provide you and your child with additional genetic counseling and support:

Why Choose Genetics and Genomic Medicine?

Our program has experience with the full range of genetic syndromes — whether common or rare. We offer the latest methods of performing genomic and genetic testing, including exome sequencing, to provide you with the most complete picture possible of your child’s genetic makeup. And, once you have your child’s genetic results, we provide genetic counseling so you have a full understanding of how to move forward with your child’s treatment.

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