Table 1. Analytes included in the 121-plex targeted metabolomics panel.
The multiplex panel includes first-tier screening markers, additional organic acids, acylcarnitines and acylglycines, and uncharacterized isobars. First-tier screening markers are defined as those included in our California Newborn Screening dataset.
| First-tier newborn screening markers and their isomers (n=45) | ||
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| Alanine | C0 (free carnitine) | C10 |
| Arginine | C2 | C10:1 |
| Citrulline | C3 | C12 |
| Glycine | C3DC | C12:1 |
| Isoleucine/Alloisoleucine | C4 | C14 |
| Leucine | C4DC (Methylmalonylcarnitine) | C14:1 |
| Methionine | C4DC (Succinylcarnitine) | C14:2 |
| Ornithine | C5 (Isovaleryl/Valerylcarnitine) | C14-OH |
| Phenylalanine | C5 (Pivaloyl/2-methylbutyrylcarnitine) | C16 |
| Proline | C5:1 | C16:1 |
| Pyroglutamic acid | C5DC | C16-OH |
| Succinylacetone | C5-OH | C18 |
| Tyrosine | C6 | C18:1 |
| Valine | C8 | C18:1-OH |
| C8:1 | C18-OH | |
| C18:2 | ||
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| Additional analytes (n=52) | ||
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| 2-aminobutyric acid | C6-OH | Methylmalonic acid |
| 2-hydroxy-3-methylbutanoic acid | Creatine | Methylsuccinic/ethylmalonic acid |
| 2-hydroxyglutaric acid | Dimethylglycine | Octadecanedioic acid |
| 2-hydroxy-methylbutyric acid | Dodecanedioic acid | Orotic acid |
| 2-methylbutyrylglycine | Glutamic acid | Propionylglycine |
| 3-hydroxy-2-methylbutanoic acid | Glutamine | Sebacic acid |
| 3-hydroxyglutaric acid | Glutaric acid | Serine |
| 3-hydroxyisovaleric acid | Guanidinoacetic acid | Suberic acid |
| 3-hydroxypropionic acid | Hexadecanedioic acid | Suberylglycine |
| 3-methylcrotonylglycine | Hexanoylglycine | Succinic acid |
| 3-methylglutaconic acid | Histidine | Sulfocysteine |
| Acetoacetic acid | Homocitrulline | Tetradecanedioic acid |
| Adipic acid | Homocysteine | Threonine |
| Asparagine | Homocystine | Tryptophan |
| Aspartic acid | Hydroxyproline | Uridine |
| Butyryl/Isobutyrylglycine | Lactic acid | Valeryl/Isovaleryl/Methylbutyrylglycine |
| C14:1-OH | Lysine | |
| C16:1-OH | Methylcitric acid | |
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| Uncharacterized ion features (isobaric to) (n=24) | ||
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| 0.34_269/136 (homocystine) | 1.72_414.4/85 (C16:1-OH) | 1.91_384.3/85 (C14:2-OH) |
| 1.3_276.2/85 (C5DC) | 1.75_384.3/85 (C14:2-OH) | 2.0_386.3/85 (C14:1-OH) |
| 1.52_262.2/85 (C5-OH) | 1.75_442.3/85 (C18:1-OH) | 2.03_428.4/85 (C18) |
| 1.54_386.3/85 (C14:1-OH) | 1.78_416.4/85 (C16-OH) | 2.1_370.4/85 (C14:1) |
| 1.59_444.4/85 (C18-OH) | 1.79_444.4/85 (C18-OH) | 2.1_386.3/85 (C14:1-OH) |
| 1.65_384.3/85 (C14:2-OH) | 1.8_288.3/85 (C8) | 2.1_414.4/85 (C16:1-OH) |
| 1.66_386.3/85 (C14:1-OH) | 1.8_442.3/85 (C18:1-OH) | 2.18_414.4/85 (C16:1-OH) |
| 1.69_388.4/85 (C14-OH) | 1.86_444.4/85 (C18-OH) | 2.26_424.4/85 (C18:2) |