All patients at our practice are seen by board certified medical geneticists and/or genetic counselors in the areas of preconception/prenatal, cancer, pediatric and adult genetics. Patients are evaluated for risk assessment, testing and management, as well as supportive counseling. Our goal is to improve the lives of our patients by providing them with the important information they need to make the best possible decisions.

Appointment Visits:

• The initial session includes a review of the patient’s medical history as well as three generational family history
• Clinical impressions and testing recommendations will be discussed. Laboratory tests such as blood tests, urine tests, imaging studies (x rays, CT scans and MRI) or EKG may be necessary
• Referrals may be made to other specialists
• Follow-up appointments are scheduled to review the results of the testing as needed
• If a diagnosis is made, medical management recommendations are made

Services:

Some of the reasons that children are referred to the pediatric genetics service include:

• Developmental delay/intellectual disability
• Autism
• Birth defects or congenital anomalies
• Chromosomal disorders
• Growth concerns: short/tall stature
• Seizures
• Early onset hearing loss
• Cardiovascular conditions known to possibly be associated with genetic factors (cardiomyopathy, long QT or hyperlipidemia)
• Metabolic/inborn errors of metabolism
• Lysosomal storage diseases
• Abnormal newborn screening result
• Any known or suspected genetic diagnosis