Biochemical Genetic Laboratory Services

The Biochemical Genetics laboratory has been established in the O'Donoghue Research Building at the University of Oklahoma Health Sciences Center since April 2011, as a College of American Pathologists (CAP) accredited laboratory offering specialized testing. The Biochemical laboratory performs qualitative and quantitative tests for inborn errors of metabolism as well as malabsorption and malnutrition disorders.  

The senior technologist Jane Pace, postdoctoral fellow Dr. Garfield Simon, technologist Bryan Lettenmaier along with laboratory director Dr. Andrea Wierenga, work closely with the core lab to ensure efficient processing, analysis and interpretation of the samples that come in for testing.

Approximately 1:1,000 live births may be affected by an inborn error of metabolism (IEM), also known as a metabolic disorder. Inborn errors of amino acid metabolism can manifest themselves at any time in a person's life, but most become evident in infancy and early childhood. Affected patients may have failure to thrive, neurological symptoms, digestive problems, locomotive retardation, and a wide spectrum of laboratory findings. If not diagnosed promptly and treated properly, these disorders can result in poor growth, mental retardation, and death. Our interdisciplinary team employs various methods such as HPLC, GCMS, and MS/MS to detect metabolites and other diagnostic markers in biological fluids and tissues.  We provide quality results in a timely fashion to aid the successful evaluation, diagnosis, and monitoring of patients.

Please refer to the Biochemical Genetic Lab Forms when ordering biochemical genetics services.

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