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Overview

The division of Pediatric Medical Genetics provides clinical evaluation for genetic disorders, comprehensive genetic counseling, and risk assessment for patients and their families. Patients are generally referred by their primary care physician or another speciaility but self-referral is appropriate. Pediatric through adult diagnostic evaluations are carried out by a team consisting of a board-certified genetic counselor, advance practice nurse, and board-certified medical geneticist. The division staff also works with the division of Maternal Fetal medicine to provide prenatal genetic evaluation and counseling services. Using a multi-disciplinary approach, we provide high quality, comprehensive diagnostic treatment and laboratory services to patients and families with or at risk for genetic problems and/or birth defects.

 

We offer continuing care for patients with genetic and inborn metabolic conditions, coordinate their multidisciplinary care, and help them access resources related to their condition.

 

Some referral indications include: 

  • Birth defects 
  • Cardiomyopathies 
  • Chromosomal disorders (eg. Down, Klinefelter, Turner syndromes) 
  • Congenital heart disease 
  • Connective tissue disorders (eg. Ehlers Danlos, Marfan) 
  • Craniofacial disorders 
  • Cystic fibrosis 
  • Delay in growth or development 
  • DiGeorge syndrome 
  • Dysmorphology 
  • Family history of a genetic disorder 
  • Fragile X 
  • Hearing loss 
  • Hemoglobinopathies 
  • Inborn errors of metabolism 
  • Inherited arrhythmias and long QT syndrome 
  • Inherited liver disorders 
  • Inherited skin (dermatological) disorders 
  • Mitochondrial disorders 
  • Muscular dystrophy 
  • Neurofibromatosis 
  • Osteogenesis imperfecta 
  • Seizures 
  • Skeletal dysplasia 
  • Spinal muscular atrophy 
  • Tuberous sclerosis