Metabolic Genetics Clinic

Your appointment- what to expect

  • In depth discussion with Geneticist and Genetic Counselor
  • Review of personal medical history
    • Results of any genetic testing
  • Detailed family history (Bring your completed Family History Questionnaire)
    • Results of genetic testing of your family members
  • Limited physical exam
  • Review of the condition and inheritance pattern
  • Personalized risk assessment/management recommendations
  • Outline of genetic testing options available
    • Implications for medical management and family members
  • Coordination for Genetic testing if appropriate
    • Review of genetic testing insurance coverage process
    • In some cases, blood may be drawn the same day
  • Abnormal New Born Screening 
  • Defects of mitochondrial function 
  • Degenerative neurologic conditions
  • Disorders of amino acid and sugar metabolism storage disorders
  • Fabry Disease
  • Fatty Acid Oxidation Disorders
  • Gauchers Disease
  • Glycogen Storage Disease
  • Lysosomal Storage Disorder
  • Mitochondrial Disorders
  • Muscle defects
  • Organic Acid Disorders
  • PKU 
  • Tyrosinemia Type 1