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.

Types of Genetic Disorders

  • 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.

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.


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.

Genetic Metabolism Disorders

The Medical Genetics Department is also active in the treatment of inborn errors of metabolism. This is a general term to describe a group of genetic disorders where the body’s chemistry is affected by an abnormal gene that then impacts on the production of a particular enzyme needed to complete a metabolic process.

For example, phenylketonuria causes phenylalanine to build up and cause damage to the brain. Galactosemia is when the body doesn’t process the sugar galactose properly, which leads to dangerous high levels and damage to the liver and brain.

Down Syndrome

Also known as trisomy 21, this condition is caused by the presence of all or part of a third copy of chromosome 21. There are usually delays in physical growth and mild to moderate intellectual disability.

The medical genetics department at Children’s Health has more than 50 years of collective experience in caring for children with Down syndrome. Our multidisciplinary approach allows for complete care in a single visit instead of multiple trips to see your child’s needed professionals. The clinic provides social and psychological support for parents, brothers and sisters through both onsite help and networking with other families.