Center for Clinical Genetics
and Genomics

Clinical Biochemical Genetics Fellowship

The Clinical Biochemical Genetics Fellowship trainee is required to review the methods for all biochemical tests performed in the laboratory and use these as a basis for understanding those tests which are required as send outs. The overall experience is focused on separation and analysis. A broad range of separation techniques utilized including isoelectric focusing, gas liquid chromatography, high-performance liquid chromatography, and tandem mass spectrometry. Analytic techniques include mass spectrometry, absorbance, fluorescence, and colorimetric analysis. Preparation of sample and chain of custody is emphasized. Quality control is reviewed on a regular monthly basis as well as overall quality control on a yearly basis. Regulatory issues are addressed and reviewed as they arise and at minimum a monthly basis. Significantly abnormal results are identified and provided to the trainee for follow-up including contact with a clinician and subsequent written clarification and an explanation of the abnormal result.

Feedback is provided during sign out and test interpretation as well as a regular quarterly basis for ongoing performance and progress. The trainee is expected to attend all general genetic conferences including the weekly case conferences, the human genetics Journal club, the human genetics noon seminar series, and the weekly medical genetics case conference.

There are multiple opportunities for investigation of individual cases as well as opportunities to develop specific research projects with a broad range of principal investigators associated with the program.

Relevant information can also be found at:

Contact Information

 

Steven F. Dobrowsolski, PhD
Children’s Hospital of UPMC
Pittsburgh, PA 15213Steven F Dobrowolski PhD
Associate Professor
Pathology
B261
Main Pathology Office
Children’s Hospital of Pittsburgh
4401 Penn Ave
Pittsburgh, PA 15224
412-692-9874
dobrowolskis@upmc.edu