Selected disorders and relevant tests
| DISORDER | SAMPLE | TEST |
| Adrenoleucodystrophy | Plasma | Very long chain fatty acids (VLCFA) |
| Antiquitin deficiency (pyridoxine responsive seizures) | Urine | Piperideine-6-carboxylate (part of metabolic profile) |
| Arginine:glycine amidinotransferase (AGAT) | Plasma & Urine | Creatine and Guanidinoacetate |
| Alkaptonuria | Urine | Organic acid profile – homogentisic acid |
| Creatine transporter defect (X-linked) | Urine | Creatine and Guanidinoacetate (part of metabolic profile) |
| Canavan's disease | Urine | Organic acid profile – N-acetylaspartic acid |
| Congenital Disorders of Glycosylation | Serum | Transferrin Isoform analysis |
| Cystinosis | White cell pellet | White cell cystine |
| Fatty acid oxidation defects during an episode or interval sample | Plasma | Acylcarnitine profile |
| Urine | Organic acid profile, Acylglycines | |
| Guanidinoacetate methyltransferase (GAMT) | Plasma & Urine | Creatine and Guanidinoacetate |
| Gyrate atrophy | Urine | Amino acid quantitation - ornithine (part of metabolic profile) |
| Gyrate atrophy | Plasma | Amino acid quantification - ornithine |
| Lesch-Nyhan syndrome | Urine | Hypoxanthine and Xanthine (part of metabolic profile) |
| Tyrosinaemia Type I | Urine | Organic acid profile - succinylacetone |
| Homocysteinaemia | Plasma | Homocysteine, total |
| 4-Hydroxybutyric aciduria | Urine | Organic acid profile -4-hydroxybutyrate |
| Hypophosphatasia | Urine or Plasma | Amino acid quantification - phosphoethanolamine |
| Hypophosphatasia | Plasma | Alkaline phosphatase |
| LCHAD deficiency | Fibroblast cell line | LCHAD specific assay |
| Maple Syrup Urine Disease | Plasma | Quantitation of branched chain amino acids |
| MCAD deficiency | ||
| Plasma | Carnitine | |
| Urine | Acylglycines | |
| Methylmalonic acidaemia | Urine | MMA Screen |
| Plasma | Quantification of MMA | |
| Molybdenum co-factor deficiency | Serum | Uric acid |
| Molybdenum co-factor deficiency | Urine or Plasma | S-Sulphocysteine |
| MPS disorders | Urine | DMB screen/ GAG tandem mass spectrometry |
| Whole Blood | Specific enzyme assay (Adelaide W&CH) | |
| Nonketotic hyperglycinaemia | Plasma & CSF | Amino acid quantification - glycine |
| Ornithine carbamoyltransferase (OTC) hemizygote | Urine | Orotic acid (part of metabolic profile) |
| Plasma | Amino acid quantification - glutamine & citrulline | |
| Peroxisomal disorders including Zellweger syndrome | Plasma | Very long chain fatty acids (VLCFA) |
| Succinate semialdehyde dehydrogenase deficiency | Urine | Organic acid profile -4-hydroxybutyrate |
| Smith-Lemli-Opitz (SLO) syndrome | Plasma | 7-Dehydrocholesterol (7DHC) |
| Urea cycle disorders | Plasma | Amino acid quantitation and ammonia |
| Urine | Amino acid and organic acid profile |