Testing, support, and resources

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Conditions we treat

We work with patients of all ages and stages, offering evaluations for a variety of reasons. There may be concerns for a specific condition, or perhaps a question whether health issues may be related to genetic differences. There also may be a known risk in the family, or a specific concern about future health problems caused by genetic differences. We gather information about a patient's medical history and learn more about their specific concerns, or the concerns of their referring provider. We then explain potential next steps and help guide our patients through that process.

Find a Pediatric Geneticist

Our experienced pediatric doctors and specialists are ready to serve you and your family.

Most common diagnoses

People are often referred to see a medical geneticist or a genetic counselor because they have a personal or family history of a specific health or developmental issue that may be caused by an underlying genetic condition. Some of the more common reasons for referral include:

  • Family history of a genetic condition
  • Known/suspected genetic conditions including Down syndrome, Noonan syndrome, Turner syndrome
  • Autism spectrum disorders
  • Intellectual disability/developmental delays
  • Hypotonia/hypertonia
  • Cardiovascular disease, including congenital heart defects, cardiomyopathy, long QT syndrome, arrhythmias
  • Muscular dystrophies, including myotonic dystrophy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy
  • Neurologic conditions such as Charcot-Marie-Tooth, spinocerebellar ataxias, spinomuscular atrophy
  • Skeletal dysplasias, such as achondroplasia and osteogenesis imperfecta
  • Short stature or growth restriction
  • Overgrowth
  • Single/multiple congenital anomalies 
  • Dysmorphic features
  • Congenital hearing loss
  • Fetal alcohol spectrum disorders
  • Preconception counseling

Genetic testing

Genetic testing can identify changes in chromosomes, genes or proteins. Results of genetic testing can confirm or rule out suspected genetic conditions, or help determine the chances a person may develop or pass on a genetic disorder. Undergoing genetic testing is voluntary. The choice about whether or not to be tested is personal.

Accountable care

We do not routinely perform genetic testing in minors for the sole purpose of determining their carrier status. If there is any suspicion that the child has, or will develop, symptoms of a condition, a consultation with our office is appropriate. The American Academy of Pediatrics and the American College of Medical Genetics and Genomics do not support genetic testing in minors when it is not medically relevant. This supports the future autonomy of the minor, who will be able to make an informed choice about wanting to know their carrier status once they reach the age of majority.