Genetics and Metabolism

UMP - image - DNA testing


Hemophilia, cystic fibrosis, birth defects and cancer are common reasons that people seek genetic counseling. But whatever the condition, questions about genetics are complex. The genetic specialists at University of Minnesota Physicians and University of Minnesota Masonic Children's Hospital can help you find answers.


We provide counseling for (but not limited to) the following:

  • Autism
  • Chromosome abnormalities (Down's syndrome,Turner syndrome, Klinefelter syndrome, 22q deletion syndrome, Prader-Willi syndrome)
  • Deafness
  • Failure to thrive
  • Fragile X syndrome
  • Genetic disorders (known or suspected) (fetal abnormalities, neurologic or pulmonary problems, skeletal/muscular disorders)
  • Genetic vision loss
  • Growth abnormalities
  • Hypoglycemia
  • Mental retardation
  • Metabolic disorders (amino acid disorders, tatty acid oxidation defects, galactosemias, glycogen storage disorders, lysosomal storage disorders, organic acidurias, phenylketonuria (PKU), urea cycle defects)
  • Multiple miscarriage
  • Neurofibromatosis
  • Noonan syndrome
  • Persons who have a family history of birth defects

Genetic services for children
University of Minnesota Physicians and University of Minnesota Masonic Children’s Hospital offers diagnosis, evaluation and care for children with a broad range of pediatric genetic and metabolism disorders. Genetic diseases, birth defects and chromosomal abnormalities are addressed, especially following newborn screening. A team of physician specialists, nurse practitioners, genetic counselors, and nutritionists works with the child and family. Our program is unique in Minnesota in diagnosing and caring for children with inborn errors of metabolism.

Clinics & Providers


Central Scheduling: 612.672.7422

Provider Referrals: 612.672.7000

Administrative Offices: 612.884.0600

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