Center for Clinical Genetics
and Genomics

Clinical Biochemical Genetics Laboratory

The clinical Biochemical Genetics Laboratory (BCG) at Children’s Hospital provides esoteric chemistry testing to all UPMC hospitals since 1982. As the mandate for the BCG lab involves only UPMC hospitals (no reference testing), assessment and data interpretation are based upon case characteristics enabled by access to relevant medical records and may include interaction with attending physicians and trainees.

BCG operates 7 days/week and 365 days/year.  The laboratory phone number is 412-864-9890. The laboratory is staffed from ~6:30 AM till 4:00 PM Monday through Friday. On weekends and holidays, the laboratory is staffed from 7:00 AM till 3:00 PM. Lorna Cropcho (cropcholj@upmc.edu; Office: 412-864-9887) is the lead technologist and has been with the lab for >30 years providing leadership and unsurpassed technical expertise. Dr. Steven F. Dobrowolski (dobrowolskis@upmc.edu; Office:412-692-9874) is the BCG Medical Director and provides data interpretation and when required follow-up recommendations.  Med Speed provides routine delivery of samples from hospitals on the Oakland campus (Presbyterian, Magee Women’s Hospital, Western Psychiatric, other), Shadyside, and Mercy. STAT courier delivery is also available. Samples from other UPMC hospitals may be sent by express delivery and we encourage consultation with the lab to assure proper sample handling and shipping. Communication with the laboratory via the director or lead technologist is essential in scenarios where

Med Speed provides routine delivery of samples from hospitals on the Oakland campus (Presbyterian, Magee Women’s Hospital, Western Psychiatric, other), Shadyside, and Mercy. STAT courier delivery is also available. Samples from other UPMC hospitals may be sent by express delivery and we encourage consultation with the lab to assure proper sample handling and shipping. Communication with the laboratory via the director or lead technologist is essential in scenarios where same day or less than 24 hour turn-around time is needed to direct patient care.

The full BCG test menu and sample requirements for individual tests are provided below. Amino acid assessment (plasma/serum, urine, CSF) and urine organic acid assessment are performed 7 days/week. Acylcarnitine assessment is generally performed once per week but BCG frequently performs special off schedule runs to accommodate diagnostic studies for newborn screen positive patients and other patients where an undiagnosed inborn error of metabolism is suspected. Very long chain fatty acids, lysosomal enzyme studies, free/total/esterified carnitine, and methylmalonic acid are generally performed on a weekly basis. Other tests are performed as needed depending upon the volume of samples received.

Inquiry with Lorna Cropcho or the Medical Director is encouraged to accommodate special testing needs.

For specific test, details see BIOCHEMICAL GENETICS TEST INFORMATION