Medical Genetics

Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. 

Services Include:

• 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)

Conditions and Treatments:

• Neurofibromatosis (NF1 & NF2)
• Prader-Willi Syndrome
• Marfan syndrome
• Down syndrome
• Chromosome 22q11
• Deletion syndrome
• Turner syndrome
• Chromosome abnormalities

Provides genetic counseling and consultation for conditions including chromosomal disorders, single gene disorders and recognizable syndromes. 

Services Include:

• 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)

Conditions and Treatments:

• Neurofibromatosis (NF1 & NF2)
• Prader-Willi Syndrome
• Marfan syndrome
• Down syndrome
• Chromosome 22q11
• Deletion syndrome
• Turner syndrome
• Chromosome abnormalities

RUN stands for Rare & Undiagnosed Network, a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision to bring genome sequencing into clinical practice covered by insurance, to help undiagnosed patients and to better understand these conditions.

Gina Szajnuk, Co-founder & Executive Director

The Penelope Program is currently focused on children with serious, complex conditions who remain without a diagnosis despite multiple evaluations. Families can apply through their health care providers through University of Utah Health Pediatrics.

The Penelope Program is a proud partnership between:
* Department of Pediatrics at U of U Health
* ARUP Laboratories
* USTAR Center for Genetic Discovery
* Center for Genomic Medicine at U of U Health
* Primary Children’s Hospital

Provides personalized genetic therapies and therapy development, including rapid genetic testing and research on whole genome sequencing.

Initial efforts are focused on providing answers to critically-ill infants in the newborn intensive care unit, and children with severe seizures and heart conditions.

Josh Bonkowsky, MD, PhD- Director

An online database for pediatric genetics centers, containing the locations of genetics clinics that have requested to be listed.
Check Pediatric Genetics under "Search by genetic service type(s)”.

American College of Medical Genetics and Genomics (ACMG)