Medical Specialties

Genetics and Metabolism


The Genetics and Metabolism department at Phoenix Children's Hospital, the only of its kind in the state of Arizona, offers comprehensive and compassionate evaluation, diagnostic, treatment and follow-up services for children and families with known or suspected genetic conditions. Our services include prenatal genetic counseling, genetic counseling for diagnosed syndromes, medical genetics team evaluations, and state-of-the-art genetic diagnostic laboratory testing.

Common Diagnoses Seen

  • Known or suspected metabolic disorders
  • Hearing loss and blindness
  • Autism
  • Phenylketonuria
  • Marfan Syndrome
  • Achondroplasia
  • Velocardiofacial Syndrome
  • Cleft Lip and Palate
  • Mitochondrial disease
  • Myelomeningocele
  • Neurofibromatosis
  • Urea Cycle Disorders
  • Muscular Dystrophy
  • Down Syndrome and other Chromosome Disorders

We also participate in several multi-speciality care teams, including the neurogenetics, sickle cell, neurofibromatosis, tuberous slcerosis, and myelomeningocele clinics. The clinic is a Lysosomal Disease Treatment Center and serves as the medical consultants for the Arizona State Newborn Screening Program, the only one of its kind in the state of Arizona. We are currently staffed by 3 medical geneticists, 3 board-certified genetic counselors, 2 metabolic dietitians and 2 genetic nurses.

Programs and Services

  • Metabolic Genetics (Treatment of Inborn Errors of Metabolism in children and adults)
  • Lysosomal Disease Treatment Center

New Patient Forms


Genetics (602) 933-4363

Rosenberg Children's Medical Building
1920 E. Cambridge Ave Ste 304
Phoenix, AZ 85006

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