Clinical Diagnostic Labs

Biochemical Genetics Laboratory

The OHSU Biochemical Genetics Laboratory is dedicated to providing specialized laboratory testing and comprehensive diagnostic evaluation of rare and unusual inherited metabolic diseases. Our expertise includes interpretation of results which requires detailed knowledge of the field by individuals specializing in clinical biochemical genetics and certified by the American Board of Medical Genetics (ABMGG).

Clinical Cytogenetics Laboratory

The OHSU Clinical Cytogenetics Laboratory specializes in high-resolution chromosome analysis. Emphasis has consistently focused on the highest quality preparations in order to provide the patient with the most accurate diagnosis. Methods used by the laboratory assure optimal results, finding more existing abnormalities than most other laboratories. When indicated, the laboratory performs specialized traditional and molecular (fluorescent in situ hybridization, FISH) chromosomal studies.

Molecular Diagnostic Center

The OHSU Molecular Diagnostic Center provides DNA based testing for diagnosis, carrier detection, and prenatal diagnosis of many genetic diseases. All current molecular genetic technologies including Southern blotting, polymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing techniques are utilized. These accurate tests are reasonable in cost and require only a blood sample, therefore offering many advantages in the evaluation of patients requiring any of the above. All tests are performed using stringent clinical protocols, assuring prompt turnaround of results. All reports include quantitative predictions of risk based on DNA data and other clinical findings. A board certified clinical molecular geneticist and a board certified clinical medical geneticist report abnormal results directly to the referring physician and discuss interpretation. Immediate final reports are communicated by telephone or FAX transmission.