We provide genetic counseling and consultation for children with a wide range of genetic conditions including chromosomal disorders, single gene disorders, and recognizable syndromes.

For pediatric specialty care, Intermountain Children's Health is affiliated with University of Utah Health. U of U Health physicians see patients at Primary Children's Hospital Salt Lake City campus, the Primary Children's Hospital in Lehi, and other locations throughout the Salt Lake City valley.

Our clinic staff is a team of interdepartmental specialists in human genetics including medical geneticists, dysmorphologists, pediatricians, obstetricians, and genetic counselors.

The division also provides inpatient consultations and participates in several outreach clinics and multidisciplinary teams including hearing assessment clinic, neurofibromatosis clinic, Prader-Willi clinic, Spina Bifida clinic, and more.

• Metabolic Clinic
• Lysosomal storage disorders clinic
• Fetal alcohol syndrome
• Newborn screening counseling & education
• Pediatric general evaluation
  • Disorders of growth
  • Neurocognitive impairment including autism
  • Birth defects
  • Distinctive facial features
  • Hearing impairment (in conjunction with otolaryngology)

Specific Expertise

• Neurofibromatosis (NF-1 & NF-2)
• Prader-Willi Syndrome
• Marfan syndrome
• Down syndrome
• Chromosome 22q11
• Deletion syndrome
• Turner syndrome
• Chromosome abnormalities