Biochemical Genetics Laboratory

The Biochemical Genetics Laboratory at Indiana University School of Medicine provides core biochemical genetics testing services to IU Health and surrounding hospitals. Enabled by state-of-the-art liquid chromatography tandem mass spectrometry equipment, the lab offers expanded clinical utility through the addition of atypical analytes, ultra low-specimen volume requirements and rapid analysis times.

We specialize in small molecule metabolite analyses (e.g., amino acids, acylcarnitines and organic acids). Many of our tests contain unique combinations of analytes that would require multiple individual tests if ordered elsewhere. Our test menu has broad applications beyond clinical diagnostics — a secondary focus of our lab is to provide high quality targeted metabolomics testing to the research community. The Biochemical Genetics Laboratory was founded in 2017 under the direction of Marcus J. Miller, PhD, FACMG.

The Biochemical Genetics Laboratory is accredited by the College of American Pathologists (CAP), certified by CLIA, and holds state specific licensure for numerous states. To ensure the quality of our testing, we participate in multiple different proficiency testing schemes including: CAP Chemistry/Therapeutic Drug Monitoring, CAP Biochemical Genetics, and European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism (ERNDIM). Our performance in these schemes demonstrates the high quality of our testing.