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

  • Neurological/ Neuromuscular  
  • Cardiac anomalies 
  • Connective tissue disorders
  • Hyperlipidemias
  • Inherited eye disease
  • Dementias
  • Intellectual disability
  • Family history of a genetic disorder

  • 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

  • Abnormal ultrasound or prenatal test results such as NIPT – URGENT

  • Family or personal history of genetic disorders, intellectual disability, autism, birth defects

  • IVF pregnancies with potential risks

  • Abnormal carrier screening results

  • Teratogenic medication exposure

  • History of stillbirth, fetal demise, recurrent miscarriages (3+), or infertility

  • Consanguinity