An alphabetical list of tests available is shown below.
| ASSAY |
SAMPLE |
METHOD |
| Acetoacetyl-CoA thiolase (mitochondrial |
Skin fibroblasts |
Specific enzyme assay on sonicated cells |
| N-Acetylaspartic acid (NAA) |
Urine |
GC/MS profile |
| Acylcarnitines |
Dried Blood Spot |
Tandem mass spectrometry profile and quantitation of free and acetylcarnitine and any abnormal acylcarnitine species. |
| Acylcarnitines |
Skin fibroblasts |
Tandem mass spectrometry profile |
| Acylcarnitines |
Plasma |
Tandem MS quantification |
| Acylglycines |
Urine |
GC/MS profile |
| Amino acids |
Urine |
High voltage electrophoresis profile |
| Amino acids |
Plasma |
Cation exchange quantification |
| Amino acids |
CSF |
Cation exchange quantification |
| Amino acids |
Urine |
Cation exchange quantification |
| Amino acids |
Amniotic Fluid |
Cation exchange quantification |
| |
| Biotinidase screen |
Dried Blood Spot |
Qualitative enzyme assay |
| |
| Carnitine |
Plasma |
Tandem MS quantification |
| Carnitine palmitoyl transferase I |
Skin fibroblasts |
Enzymatic/radio-labelled |
| Carnitine palmitoyl transferase II |
Skin fibroblasts |
Enzymatic/radio-labelled |
| Carnitine uptake |
Skin fibroblasts |
Intact cell uptake of carnitine |
Cystine
(Cystine screening and monitoring are carried out by the Dept of Clinical Biochemistry, Royal North Shore Hospital (RNS). Our department confims each provisional diagnosis of cystinuria made by RNS) |
Urine |
Cation exchange quantification |
| Creatine and Guanidinoacetate |
Plasma or Urine |
Tandem MS quantification |
| |
| 7-Dehydrocholesterol |
Plasma
Metabolites are light sensitive. |
GC/MS screen |
| Dihydropteridine reductase (DHPR) |
Dried Blood Spot |
Spectrophotometric |
| |
| Fatty acid oxidation screen by acylcarnitine analysis |
Skin fibroblasts |
Tandem MS and quantification |
| |
| Glutarate |
Urine |
GC/MS screen |
| Glutarate |
Plasma |
GC/MS quant. - stable isotope dilution |
| Glutarate |
Amniotic fluid |
GC/MS quant. - stable isotope dilution |
| Glycine |
Urine |
HVE profile |
| Glycine |
Plasma |
Cation exchange quantification |
| Glycine |
CSF
(CSF and plasma must be a paired collection within 1 hour of each other) |
Cation exchange quantification |
| Glycosaminoglycans (MPS) |
Urine |
Quantitative DMB dye binding assay |
| Glycosaminoglycans (MPS) |
Urine |
High resolution electrophoresis |
| |
| Hexanoylglycine |
Urine |
GC/MS profile |
| Homocysteine, total |
Plasma |
Tandem MS quantification |
| Homocystine |
Urine |
HVE profile |
| Homocystine |
Plasma
(samples for plasma homocystine require freezing within 20 minutes of collection)
|
Cation exchange quantification |
| Homogentisic acid |
Urine |
GC/MS profile |
| 4-Hydroxybutyrate |
Urine |
GC/MS profile |
| |
| Lactate |
Urine |
GC/MS profile |
Long chain 3 hydroxyacyl
CoA dehydrogenase (LCHAD) |
Skin fibroblasts |
Specific enzyme assay on sonicated cells |
Long chain 3 hydroxyacyl
CoA dehydrogenase (LCHAD)# |
CVS# |
Specific enzyme assay on sonicated cells |
| |
| Malonic acid |
Amniotic fluid |
GC/MS quant. - stable isotope dilution |
| Malonic acid |
Urine |
GC/MS quant. - stable isotope dilution |
| MCAD DNA common mutation |
Dried Blood Spot |
DNA/PCR (performed by NSW Newborn Screening Programme) |
| Metabolic screen |
Urine |
Includes an Amino Acid profile, Methylmalonic acid screen, GAG screen and Organic Acids. |
| Methylmalonic acid |
Plasma |
Tandem MS quantification |
| Methylmalonic acid |
Amniotic fluid |
Tandem MS quantification |
| Methylmalonic acid |
Urine |
GC/MS profile |
| Mucopolysaccharides (MPS) |
Urine |
Quantitative DMB dye binding assay |
| Mucopolysaccharides (MPS) |
Urine |
High resolution electrophoresis |
| |
| N-acetylaspartic acid (NAA) |
Urine |
GC/MS profile |
| |
| Ornithine |
Plasma |
Cation - exchange quantification |
| Orotic acid |
Urine |
Qualitative Screen - GC/MS profile |
| Orotic acid |
Urine |
GC/MS quant. - stable isotope dilution |
| |
| Phosphoethanolamine |
Urineor Plasma |
Cation - exchange quantification |
| Pipecolic acid |
Urine |
HVE profile |
| Protein Load Test (orotate) |
Timed Urine - see protocol. |
GC/MS quant. - stable isotope dilution |
| |
| Short-chain 3 hydroxyacyl CoA dehydrogenase (SCHAD) |
Skin fibroblasts |
Specific enzyme assay on sonicated cells |
| Succinylacetone (protect samples from light) |
Urine |
GC/MS profile |
| S - Sulphocysteine |
Urine |
HVE profile |
| S - Sulphocysteine |
Urine |
Cation exchange quantification |
| |
| Transferrin Isoforms |
Serum |
Capillary electrophoresis |
| |
| Very long-chain acyl-CoA dehydrogenase (vLCAD) |
Skin fibroblasts |
Specific enzyme assay on sonicated cells |
| Very long chain fatty acids (VLCFA) |
Plasma |
GC/MS quant. - stable isotope dilution |
