| CSF | Cerebrospinal Fluid |
| DBS | Dried Blood Spot |
| GAG | Glycosaminoglycans |
| GC-MS | Gas Chromatography-coupled Mass Spectrometry |
| IEM | Inborn Errors of Metabolism |
| LC-ESI | Liquid Chromatography-Electrospray Ionisation |
| MS/MS | Tandem Mass Spectrometry |
| MALDI-TOF | Matrix-Assisted Laser Desorption/Ionisation-Time Of Flight |
| MPS | Mucopolysaccharidoses |
| NBS | Newborn Screening |
| NGS | Next Generation Sequencing |
| PKU | Phenylketonuria |
| TLC | Thin Layer Chromatography |
| VLCFA | Very-Long-Chain Fatty Acids |
| VUS | Variants of Uncertain Significance |