700x467_genetics_lab

Treatment Options

  • Developmental delay, Intellectual disability or Autism
  • Failure to thrive 
  • Hypotonia / Spasticity
  • Microcephaly / Macrocephaly
  • Brain / Neurologic abnormalities
  • Short stature, Skeletal dysplasia, Overgrowth, or Syndromic obesity
  • Dysmorphic features / Birth defects

Adults

  • Neurologic disorders (sensory and motor neuropathies)   
  • Cardiomyopathies
  • Hyperlipidemias
  • Inherited eye, muscle or nerve disease
  • Dementias
  • Intellectual disability
  • Family history of a genetic disorder

  • Abnormal ultrasound findings - Urgent
  • Positive Non-Invasive Prenatal Testing (NIPT)- Urgent
  • Recurrent pregnancy loss
  • Parental carrier screening
  • Consanguinity
  • History of Stillbirth
  • Family or personal history of a genetic disorder
  • Teratogen exposure
  • Infertility
  • Preconception counseling

  • Personal or family history of early-onset cancer (<50 years)
  • Personal or family history of known hereditary cancer syndrome (e.g., BRCA1/2, Lynch syndrome) 
  • Personal history of ovarian, pancreatic, metastatic prostate, or triple-negative breast cancer diagnosed at any age