| test | description / indication |
|---|
| Acetoacetate | Ketosis |
| Acylcarnitine: Isomer separation | Separation of isomeric acylcarnitines e.g. C5-OH-acylcarnitine (3-OH-C5 vs 2-methyl-3-OH-C4, methylmalonyl- vs succinyl-carnitine etc.) |
| Acylcarnitines | Fatty acid oxidation defects, organic acidemias |
| Amino acids | Aminoacidopathies, nutrional studies |
| Beta-amino acids | Beta-aminoisobutyric acid, beta-alanine, gamma-aminobutyric acid (GABA). GABA transaminase deficiency and pyrimidine degradation defects |
| Bile acids | Bile acid synthesis defects, peroxisomal disorders and cholestatic jaundice |
| (Monolyso)cardiolipins | Barth syndrome. Screening test in dried bloodspot, confirmation in lymphocytes, fibroblasts or tissue |
| Carnitine biosynthesis intermediates | Trimethyllysine, hydroxytrimethyllysine, gamma-butyrobetaine, biosynthetic precursors of carnitine, carnitine deficiency |
| Cholestanol | Cerebrotendinous xanthomatosis |
| Creatine and guanidinoacetic acid | Creatine synthesis and transport defects |
| D- and L-2-hydoxyglutaric acid | Differentiation between L- and D-2-hydroxyglutaric acidurias |
| D- and L-amino acids | R- and S-serine / R- and S-aminoisobutyric acid |
| 2,8-Dihydroxyadenine | Adenine phosphoribosyltransferase (APRT) deficiency, renal stones |
| Dimethylmethylene blue test | Screening test for mucopolysaccharidoses |
| Essential fatty acids (PUFAs) | Nutritional studies |
| Flavins | Riboflavine, FMN and FAD; Flavine synthesis/transport defects |
| Free catecholamines and metanephrines | Tumor diagnostics (neuroblastoma, pheochromocytoma) |
| 3-hydroxybutyric acid | Ketosis |
| 8-Hydroxydeoxyguanosine | Marker of oxidative stress |
| Isoprostanes | Marker of cyclooxygenase-indepent lipid peroxidation |
| Lactic acid | Mitochondrial diseases, metabolic acidosis |
| Malondialdehyde | Marker of lipid peroxidaton |
| Methylmalonic acid | Marker of vitamin B12/cobalamin deficiency, cobalamin synthesis/transport defects |
| Methyltetrahydrofolate | Marker of folate deficiency / folate transport defects |
| Mevalonic acid | Hyper IgD syndrome / mevalonate kinase deficiency |
| MHPG (4-hydroxy-3-methoxyphenylglycol) | Neurotransmitters defects / tumor diagnostics (neuroblastoma, pheochromocytoma) |
| Mucopolysaccharides electrophoresis | 2D-electrophoresis of mucopolysaccharides for the differentiation of mucopolysaccharidoses |
| Oligosaccharides | Oligosaccharidoses |
| Organic acids | Organic acidurias |
| Oxalic acid | Hyperoxalurias, renal stones |
| Oxalic anc glycolic acid | Hyperoxalurias, renal stones |
| Palmitic acid/Stearic acid ratio | Assessment of fetal lung maturation |
| Phenolic acids | Neurotransmitters defects / tumor diagnostics (neuroblastoma, pheochromocytoma) |
| Phenylalanine and tyrosine | Phenylketonuria |
| Phytanic and pristanic acid | Peroxisomal defects, Refsum disease |
| Pipecolic acid | Peroxisomal defects, pyridoxal phosphate-responsive seizures (alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency or antiquitin deficiency) |
| Plasmalogens | Peroxisomal defects |
| Polyols and sugars | Transaldolase deficiency, ribose 5-phosphate isomerase deficiency |
| Pterins | Pterin synthesis and regeneration defects, phenylketonuria and neurotransmitter defects |
| Purines | Purine synthesis, salvage and degradation defects |
| Pyridoxal phosphate | Pyridoxal phosphate, pyridoxal and pyridoxine; vitamin B6 responsive seizures; antiquitin deficiency and pyridoxamine 5-phosphate oxidase deficiency |
| Pyrimidine biosynthesis intermediates | Orotic acid, orotidine and related metabolites; urea cycle defects |
| Pyrimidines | Pyrimidine degradation defects; e.g. dihydropyrimidine dehydrogenase deficiency |
| Pyruvic acid | Mitochondrial diseases (PDH) |
| S-adenosylmethionine and S-adenosylhomocysteine | Hypermethioninemias and homocystinurias, methylation defects |
| Sialic acid | Sialic acid storage disorders (sialuria, Salla disease) |
| Sialotransferrins | CDG syndromes, N-linked glycoproteins |
| Sterols | Cholesterol biosynthesis defects, cerebrotendinous xanthomatosis |
| Succinylacetone | Tyrosinemia type I |
| Sulphite and thiosulphate | Sulphite oxidase / Molybdenum cofactor deficiency |
| Total homocysteine | Homocystinurias |
| Total hydroxyproline | Bone/collagen turnover |
| Ubiquinon / Q10 | Mitochondrial diseases, Q10 synthesis defects and MADD |
| Very long-chain fatty acids | Peroxisomal disorders, X-ALD |