The Stanford Biochemical Genetics Service specializes in the diagnosis of inborn errors of metabolism. Our team offers highly specialized testing and interpretation for the diagnosis, monitoring, and clinical care of patients with inborn errors of metabolism, malabsorption and malnutrition disorders.
Results are fully interpreted by an American Board of Medical Genetics and Genomics-certified Clinical Biochemical Geneticist. Stanford’s team of experts provide clear and actionable interpretation of the results for our patients and clients.
Stanford’s biochemical genetics team routinely performs qualitative detection and quantitative determination of diagnostic biomarkers based on a variety of chromatographic methods including high-performance liquid chromatography (HPLC), gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Urine screening for lysosomal storage disorders and enzymatic testing for Biotinidase deficiency are also performed.