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Medical genetics is concerned with how diseases, birth defects, or other health problems are inherited or passed down from one generation to the next through the genes. Genes are the building blocks of heredity that hold DNA, the instructions for making proteins. Proteins do most of the work in cells by moving molecules to where they are needed, building structures, breaking down toxins and doing general clean up and maintenance work around the body.

Sometimes there is a mutation or a change in a gene or genes. This effects the gene's instructions for making a protein. If the protein is missing or not working properly, this causes a medical condition known as a genetic disorder.

Why Children's Health℠?

The physicians who practice at Children’s Health are all certified by the American Board of Medical Genetics and have extensive clinical experience. Every person in the entire genetic counseling group has at least a master’s degree in the field.

Medical Genetics offers evaluation and testing, information about specific genetic diseases, family history analysis, and chromosomal, metabolic and DNA analysis for the diagnosis of diseases. Counselors can assist with genetic counseling and discussions of options for having children. Social workers can link the family to other medical specialists as needed, as well as community resources and support groups.

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed.
  • Complex disorders, with mutations in two or more genes. Often lifestyle and environment also play a role.

Conditions We Treat

The Medical Genetics Department services include:

  • Evaluation and testing for children with known or suspected inborn errors of metabolism
  • Education about specific inborn errors of metabolism
  • Comprehensive case management with referral to medical specialists, community resources and support groups
  • Family history analysis and genetic counseling to discuss reproductive options as pertains to inborn errors of metabolism
  • Consultation regarding abnormal newborn screening and metabolic testing results

The Advanced Diagnostics Laboratory, a state of the art testing facility, does genetics testing at Children’s Health℠ . It is the only clinical provider in the entire United States for several important genetic tests. They also do more routine testing for metabolic and neurological diseases.