TABLE 2.

General methods for the qualitative and quantitative determination of diagnostic markers of inborn errors of metabolism.

Methods	Example of disorder investigated
Thin-layer chromatography	Amino acid disorders
High-performance liquid chromatography	Amino acid disorders
Ion exchange chromatography	Amino acid disorders
Gas chromatography	Organic acid disorders
Tandem mass spectrometry	Many IEMs
Liquid chromatography-mass spectrometry	Organic acid disorders
Colorimetric/fluorometric methods	Many IEMs
Enzyme-linked immunosorbent assay	Organic acid disorders
Gas chromatography-mass spectrometry	Organic acid disorders
Electrophoresis, including acrylamide gel electrophoresis	Amino acid disorders

Source: Mayo Clinic Medical Laboratories. Biochemical genetics – Inborn errors of metabolism. Rochester, MN: Mayo Foundation for Medical Education and Research; 2011.

IEMs, inborn errors of metabolism.