Our genetic and metabolic services team provides high-quality care for patients and families with genetic and metabolic conditions.

Physicians, nurse practitioners, genetic counselors and a metabolic dietitian work together to provide diagnosis, evaluation and management of children and adults with genetic diseases, birth defects, chromosomal abnormalities, teratogen exposure and inborn errors of metabolism, especially following newborn screening.

We perform physical and laboratory tests, collect a detailed family history and provide expert diagnostic services and genetic counseling. University of Minnesota Children’s Hospital, Fairview genetic counselors are certified by the American Board of Genetic Counseling and have specific training in human and medical genetics as well as psychosocial counseling.

Conditions We Evaluate

• PKU
• MPSI—Hurler/Scheie Syndrome
• DOOR Syndrome
• Noonan Syndrome
• Autism
• Genetic birth defects
• Chromosome abnormalities
  -Down syndrome
  -Turner syndrome
  -Klinefelter syndrome
  -22q deletion
• Failure to thrive
• Family history of birth defects
• Fragile X syndrome
• Genetic disorders (known or suspected):
   -Fetal abnormalities
   -Neurologic or pulmonary problems
   -Skeletal/muscular disorders
• Growth abnormalities
• Intrauterine teratogen exposure
• Mental retardation
• Metabolic abnormalities
• Multiple miscarriage
• Prader-Willi syndrome
• Prenatal diagnosis
• Skeletal, neuromuscular disorders

Services We Offer

• Genetic counseling services
• Management after abnormal newborn state genetic screening
• Infusion therapy