Pediatric Genetics

Many children with developmental delays and autism will have an underlying genetic etiology. At TMH Physician Partners - Clinical Genetic Center, we provide a comprehensive evaluation for children presenting with delays and autism. We can offer insight into more tailored creation for IEP’s for the child’s school as well.

We accept referrals for any specific or suspected genetic disorder including, but not limited to, the following:

  • Developmental delay or autism.
  • Birth defect or suspected birth defect.
  • Chromosomal disorder such as William’s syndrome, Angelman’s syndrome or Prader Willi syndrome.
  • Metabolic disorder workup.
  • Down’s syndrome.
  • Fragile X.
  • Neurocutaneous disorders such as neurofibromatosis and tuberous sclerosis.
  • Movement disorders.
  • Craniofacial disorders.
  • Cleft lip/palate.
  • Hearing loss.
  • Lysosomal storage disorders.
  • Congenital cardiac defects.
  • Long QT syndrome.
  • Cardiomyopathies.
  • 22q11 deletion (DiGeorge syndrome).
  • Noonan syndrome.
  • Trisomies.
  • Mitochondrial disorders.
  • Connective tissue disease.
  • Family History of a genetic condition.