Table 3

Newborn screening analytes

Marker typeAnalytes measured
Acyl-carnitines, Acylcarnitine ratios, otherC0, C0|C16, C18, C0, C2, C3, C16, C18|Cit
C2
C3, C3DC, C3|C0, C3|C16, C3, C2, C3|C4DC
C4, C4OH, C4DC
C5, C5:1, C5DC, C5OH, C5|C0, C5|C2, C5|C3, C5DC|C16, C5DC|C5OH,
C5DC|C8, C5OH|C2, C5OH|C5:1, C5OH|C8
C6, C6DC
C8, C8:1, C8|C10, C8|C2
C10, C10:1
C12, C12:1
C14, C14:1, C14:2, C14:1|C12:1, C14:1|C16, C14.1|C4, C14OH
C16, C16OH, C16:1OH C16:1OH|C4DC, C16OH|C16
C18, C18:1, C18:2, C18OH, C18:1OH
Medium-chain acyl-CoA
Amino acids, amino acid ratios, otherAlanine, arginine, citrulline, glycine, leucine, methionine, ornithine, phenylalanine, succinylacetone, tyrosine, valine, citrulline:arginine, leucine:alanine, leucine:phenylalanine, methionine:phenlyalanine, phenylalanine:tyrosine, valine:phenylalanine
Cystic fibrosis markersImmunoreactive trypsinogen (IRT), cystic fibrosis transmembrane conductance regulator gene (CFTR) mutation 1, CFTR mutation 2, intron 8 polythymidine tract (5T/7T/9T)
Endocrine markersThyroid-stimulating hormone, 17-hydroxyprogesterone (17OHP), androstenedione, cortisol
Enzyme markersBiotinidase (BIOT), galactose-1-phosphate uridyl transferase (GALT)
T-cell functionT-cell receptor excision circles (TRECs)
Haemoglobin variants, haemoglobinopathies and peak percentagesHaemoglobin (HGB): adult haemoglobins, HbA(A) and variants (S, C, D, E, B-thal)
HGB peak percentages: HGB-FAST, HGB-F1, HGB-F, HGB-F+F1, HGBFAST+F1, HGB-Other, HGB-A
PurinesAdenosine, deoxyadenosine, guanosine, deoxyguanosine, inosine, deoxyinosine, xanthine, hypoxanthine