Metabolic Genetics
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
OHSU Metabolic Genetics in our community
Documents and additional information for patients and providers
Family History Form
Family History Form (Spanish)
Medical History Form
Virtual Visit Tip Sheet for Patients