Pediatrics

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

• Early-onset cancer (<50 years)
• Known hereditary cancer syndrome (e.g., BRCA1/2, Lynch syndrome) 
• Ovarian, pancreatic, metastatic prostate, or triple-negative breast cancer diagnosed at any age

• Abnormal ultrasound or prenatal test results such as NIPT

• 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