Conditions We Evaluate

Common Reasons for a Pediatric or Adult Genetics Referral

• Autism spectrum disorder
• Developmental delay
• Intellectual disability       
• Growth concerns
  • Syndromic failure to thrive
  • Short stature
  • Obesity
  • Overgrowth/hemihyperplasia
  • Macrocephaly
• Chromosome disorders   
• Multiple congenital anomalies/birth “defects”  
• Atypical facies/ “dysmorphic” features
• Results interpretation/discussion visit                 
• Rare syndromes                                          
• Seizures genetics
• Connective tissue disorders 
  • Marfan syndrome
  • Aortopathy/aortic dilation
  • Vascular EDS (we cannot accept referrals for Ehlers-Danlos syndrome/joint hypermobility at this time)
• Personal/family history of
  • Cardiomyopathy/arrhythmia
  • Retinal/eye disorders
  • Other possible genetic disorders

Common Reasons for a Cancer Genetics Referral

• You or a close relative have or had colon, ovarian, pancreatic, uterine, stomach, or metastatic prostate cancer
• You were diagnosed with breast cancer before age 50, or have had multiple breast cancers
• A close relative was diagnosed with breast cancer before age 50
• You have 10 or more gastrointestinal polyps
• You have multiple family members diagnosed with breast, colon, uterine, or gastrointestinal cancers before age 50
• You have another type of cancer and want to know if genetic 

Talk to your doctor about whether a referral is appropriate.