Genetics, Metabolism and Genomic Medicine (Pediatric)

When your child has a genetic condition, it can be a scary road to travel without proper understanding of the issue or a treatment plan. At the Division of Pediatric Genetics, Metabolism and Genomic Medicine at C.S. Mott Children’s Hospital, part of the University of Michigan Health System, we provide comprehensive care in the diagnosis, treatment and prevention of birth defects, structural abnormalities, inherited diseases, chromosomal abnormalities and intellectual disabilities. Our team of experts identify genetic diseases, analyze chromosomes, perform amniocentesis for prenatal diagnosis, conduct molecular and DNA diagnostics, and provide genetic counseling.

Conditions evaluated by the Division of Pediatric Genetics Metabolism and Genomic Medicine

  • Autism
  • Birth Defects and Congenital Anomalies
  • Cardiac genetics
  • Craniofacial genetics (irregularity of the face and skull)
  • Cystinosis (excess amounts of the amino acid cystine in the cells, affecting kidneys and eyes)
  • Down syndrome
  • Ehlers-Danlos, Osteogenesis Imperfecta and Marfan Syndromes (disorders of connective tissue, including skin and joints)
  • Fragile X syndrome (inherited mental impairment)
  • Lysosomal storage disorders (such as Pompe disease)
  • Neurofibromatosis (nervous system disorder that can affect skin and bone)
  • Skeletal abnormalities and limb defects
  • Urogenital malformation (defects in urinary system or genitalia)

Children inherit half of their genetic information from their mother and the other half from their father. Genes, alone or in combination, determine what features a person inherits from his or her parents, such as blood type, hair color, eye color and other characteristics, including risks of developing certain diseases. Certain changes in genes or chromosomes may cause medical problems. When one or more genes or chromosomes are missing or mutated, or if extra chromosomes are present, the proteins may not get made, may be made incorrectly, or too many may be made. Any of these situations can cause abnormal development and growth and can result in a genetic syndrome. A genetic test examines a DNA sample of a person's cells for abnormal genes, or analyzes the number, arrangement and characteristics of the chromosomes. Testing is performed by analyzing samples of blood or body tissues to determine if you or your child carry genes for certain inherited disorders. Since the information obtained from a genetic test can have a profound impact on your child’s life, you may want to see one of our genetic counselors. A genetic counselor can help you make well-informed decisions. Ask to have genetic counseling before making a decision about genetic testing. Also available to our patients and their families is the onsite Michigan Medical Genetics Laboratories – based in the Department of Pediatrics – with a singular goal to provide cutting-edge testing for rare genetic diseases.


Schedule an appointment by calling us at 734-764-0579.