Cut-off values used in newborn screening tests performed using fluorescence immunoassays or tandem mass spectrometry in the first trial in 2022
| Variable | Unit | Mean | Median | Minimum | Maximum | No. of institutions |
|---|---|---|---|---|---|---|
| 17-OH progesterone | ng/mL | 5.9 | 6.0 | 4.6 | 6.6 | 15 |
| Total galactose | mg/dL | 9.2 | 9.0 | 8.0 | 10.0 | 15 |
| Amino acids | ||||||
| Alanine | µmol/L | 804.1 | 761.5 | 577.5 | 1,342.6 | 14 |
| Arginine | µmol/L | 58.9 | 57.8 | 40.0 | 76.5 | 15 |
| Citrulline | µmol/L | 45.9 | 44.6 | 35.9 | 60.0 | 15 |
| Glutamate | µmol/L | 704.3 | 494.5 | 850.0 | 9 | |
| Glycine | µmol/L | 1,015.9 | 1,054.0 | 500.0 | 1,232.0 | 15 |
| Histidine | µmol/L | 255.6 | 137.9 | 70.0 | 1,174.3 | 10 |
| Leucine+isoleucine | µmol/L | 303.0 | 307.1 | 223.5 | 349.4 | 15 |
| Methionine | µmol/L | 58.8 | 59.0 | 43.3 | 86.5 | 15 |
| Ornithine | µmol/L | 310.6 | 305.9 | 180.0 | 418.7 | 15 |
| Phenylalanine | µmol/L | 113.7 | 114.2 | 90.0 | 139.3 | 15 |
| Proline | µmol/L | 358.9 | 353.7 | 213.3 | 500.0 | 14 |
| Tyrosine | µmol/L | 281.0 | 288.2 | 215.0 | 342.6 | 15 |
| Valine | µmol/L | 284.1 | 289.5 | 210.6 | 363.3 | 15 |
| Methionine/phenylalanine | 1.0 | 0.9 | 1.4 | 8 | ||
| Phenylalanine/tyrosine | 2.5 | 1.9 | 6.1 | 8 | ||
| Acylcarnitines | ||||||
| C0 | µmol/L | 66.23 | 63.00 | 54.24 | 97.32 | 15 |
| C2 | µmol/L | 48.56 | 48.00 | 38.85 | 70.29 | 14 |
| C3 | µmol/L | 5.35 | 5.14 | 3.72 | 7.27 | 15 |
| C4 | µmol/L | 0.64 | 0.54 | 0.46 | 1.40 | 15 |
| C5 | µmol/L | 0.62 | 0.62 | 0.38 | 1.00 | 15 |
| C6 | µmol/L | 0.21 | 0.17 | 0.11 | 0.50 | 14 |
| C8 | µmol/L | 0.28 | 0.30 | 0.11 | 0.43 | 15 |
| C10 | µmol/L | 0.26 | 0.23 | 0.15 | 0.42 | 15 |
| C12 | µmol/L | 0.32 | 0.25 | 0.11 | 0.80 | 14 |
| C14 | µmol/L | 0.52 | 0.48 | 0.35 | 0.80 | 14 |
| C16 | µmol/L | 6.18 | 5.93 | 5.10 | 8.00 | 15 |
| C18 | µmol/L | 1.84 | 1.87 | 1.50 | 2.08 | 14 |
| C5DC | µmol/L | 0.23 | 0.20 | 0.13 | 0.40 | 15 |
| C5OH | µmol/L | 0.55 | 0.50 | 0.33 | 0.92 | 14 |
| C3/C2 | 0.30 | 0.30 | 0.72 | 7 | ||
| C5/C3 | 1.46 | 0.40 | 2.08 | 7 | ||
| C8/C10 | 3.55 | 2.50 | 4.91 | 3 | ||
| C5/C0 | 0.05 | 0.02 | 0.07 | 3 | ||
| C5/C2 | 0.05 | 0.03 | 0.29 | 7 | ||
| C8/C2 | 0.03 | 0.02 | 0.12 | 7 |
Abbreviation: 17-OH progesterone, 17-hydroxyprogesterone.