Clinical Services

Clinical genetics services at OHSU center on the diagnosis and treatment of inherited disorders using expert physician assessment coupled with integrated genetic diagnostic laboratory evaluations.  Determination of patient findings and precise laboratory studies at a single center allow a unified approach to management of inherited medical disorders. The genetics service incorporates additional medical disciplines in clinics when combined physician skills better serve patients. The clinical genetics service provides consulting expertise for patients in OHSU Hospitals and the greater Portland area on a full time basis.


Areas of Concentration

Among areas of concentration for OHSU clinical genetic services in care of heritable disorders are:


Including sickle cell anemia, thalassemia, hereditary hemorrhagic telangiectasia, and disorders of clotting


Including breast cancer, colorectal cancer, inherited solid tumors, including neurofibromatosis, and genome instability disorders such as Fanconi anemia and xeroderma pigmentosum


Including hypertrophic cardiomyopathy, congenital abnormalities and aneurysms

Connective tissue

Including Marfan syndrome, Ehlers-Danlos syndrome and hypermobility

Familial Endocrine

Including Albright’s, disorders of steroid hormone metabolism and ambiguous genitalia

Genetic Eye

Including congenital cataract and macular degeneration

Inborn Errors of Metabolism

Including causes of neonatal jaundice and coma, mitochondrial disorders, and lipid metabolism disorders


Including Huntington syndrome, disorders of iron metabolism, ataxias, and peripheral neuropathies

Prenatal Diagnosis and Counseling

Including pre-implantation genetic diagnosis, Developmental delay and mental retardation, with or without associated dysmorphology or chromosomal abnormalities