Genomic Medicine and Genetics

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Children’s Minnesota has the only genomic medicine program in Minnesota that focuses exclusively on caring for kids and uses the latest clinical advances in genomics to deliver the best care. We specialize in the diagnosis, evaluation and treatment of genetic conditions — from the very common to the most complex and rare.

Our Metabolic and Newborn Screening Clinic sees the majority of babies in Minnesota who have an abnormal newborn screen. Our team conducts initial confirmatory evaluations and provides follow-up care for children whose screens are abnormal or have a presumed or confirmed inborn error of metabolism.

Conditions treated

  • Abnormal newborn screening results
  • Ambiguous genitalia
  • Angelman syndrome
  • Anosmia (impaired sense of smell)
  • Alagille syndrome
  • Autism spectrum disorders that may have a genetic cause or component
  • Birth defects
  • Birthmarks
  • Brain abnormalities
  • Cardiac arrhythmias
  • Cardiovascular conditions, such as cardiomyopathyatrioventricular septal defecthypoplastic left heart syndrome, and ventricular septal defect
  • CHARGE syndrome
  • Chromosomal abnormalities
  • Cognitive impairment
  • Connective tissue abnormalities (abnormal bones or joints)
  • Craniofacial abnormalities such as Pierre Robin sequence
  • Cystic fibrosis and positive newborn screening results for cystic fibrosis
  • Dental abnormalities
  • Developmental delays that may have a genetic component
  • Down syndrome
  • Ehlers-Danlos syndrome Epilepsy and seizure disorders
  • Eye problems
  • Failure to thrive
  • Fragile X syndrome
  • Family history of genetic condition
  • Hearing loss
  • Hematology/oncology (cancer and blood) conditions
  • Holt-Oram syndrome
  • Hypertrophic cardiomyopathy
  • Klinefelter syndrome (47, XXY)
  • Learning disability or learning problems
  • Loeys-Dietz syndrome
  • Loss of developmental milestones
  • Lysosomal storage diseases such as MPS I (Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome), MPS II (Hunter Syndrome), MPS III (Sanfilippo syndrome), MPS VI (Maroteaux-Lamy syndrome), Gaucher disease, Fabry disease, or Pompe disease
  • Macrocephaly (large head)
  • Marfan syndrome
  • Metabolic conditions (PKU, tyrosinemia, MCAD)
  • Microcephaly (small head)
  • Mitochondrial conditions
  • Neurofibromatosis Type 1
  • Noonan syndrome
  • Osteogenesis imperfecta
  • Overgrowth conditions
  • Pierpont syndrome
  • Prader-Willi syndrome
  • Primary ciliary dyskinesia
  • Rett syndrome
  • Short stature
  • Sickle cell disease and carriers
  • Skeletal dysplasias
  • Skin or hair abnormalities
  • Spina bifida
  • Stickler syndrome
  • Supravalvular aortic stenosis
  • Tall stature
  • Trisomy X (47, XXX)
  • Tuberous sclerosis complex
  • Turner syndrome
  • Distinctive facial features
  • VACTERL, also known as VATER
  • Velocardiofacial syndrome, also known as 22q11 deletion disorder or DiGeorge syndrome
  • Williams syndrome

Services offered

  • Metabolic and newborn screening clinic with initial confirmatory evaluations and follow-up care
  • Medical genetics evaluation by board certified pediatric geneticists
  • Metabolic genetics evaluations
  • Pediatric nurse practitioners with advanced practice pediatric nurse credentials in genetics
  • Genetic counselor consultation
  • A multidisciplinary evaluation to provide a unifying diagnosis for children with complex medical problems

Related specialties

Scheduling for Children’s Minnesota locations

Minneapolis and St. Paul

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