| DISORDER |
SAMPLE |
TEST |
| Adrenoleucodystrophy |
Plasma |
Very long chain fatty acids (VLCFA) |
| 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 |
| Canavan's disease |
Urine |
Organic acid profile - N-acetylaspartic acid |
| Congenital Disorders of Glycosylation |
Serum |
Transferrin Isoform analysis |
| Fatty acid oxidation defects during an episode or interval sample |
Plasma |
Quantitation of Free Carnitine and Acylcarnitines |
| Dried Blood Spot |
Acylcarnitine profile |
| Urine |
Acylglycines, Organic acid profile |
| Guanidinoacetate methyltransferase (GAMT) |
Plasma & Urine |
Creatine and Guanidinoacetate |
| Gyrate atrophy |
Urine |
Amino acid profile - ornithine |
| Gyrate atrophy |
Plasma |
Amino acid quantification - ornithine |
| Hereditary tyrosinaemia Type I |
Urine |
Organic acid profile - succinylacetone |
| Homocysteinaemia, mild |
Plasma |
Homocysteine, total |
| Homocystinuria, classical |
Urine |
Amino acid profile - homocystine |
| Plasma |
Quantitation of homocystine, methionine and Homocysteine, total |
| 4-Hydroxybutyricaciduria |
Urine |
Organic acid profile |
| Hypophosphatasia |
Urine or Plasma |
Amino acid quantification - phosphoethanolamine |
| Hypophosphatasia |
Plasma |
Alkaline phosphatase |
| LCHAD deficiency |
Fibroblast cell line |
LCHAD specific assay & DNA/PCR |
| Maple Syrup Urine Disease |
Plasma |
Quantitation of branched chain amino acids |
| MCAD deficiency during an episode or interval |
Dried Blood Spot |
Acylcarnitine profile |
| Plasma |
Carnitine |
| Urine |
Acylglycines |
| Methylmalonicacidaemia |
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 electrophoresis |
| Whole Blood |
Specific enzyme assay (Adelaide W&CH) |
| Nonketotic hyperglycinaemia |
Plasma & CSF |
Amino acid quantification - glycine |
| Ornithine carbamoyl transferase (OCT) hemizygote |
Urine |
Orotic acid qualitative screen |
| 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 |
| 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 |
| Vitamin B12 deficiency (See notes on charging) |
Plasma |
Methylmalonic acid, Homocysteine, total |
