Tests Available
An alphabetical list of tests available is shown below.
*Please note new pricing schedule for Fibroblast Culture and Cell Storage service effective March 1st, 2021.
| ASSAY | SAMPLE | METHOD | TYPICAL TURNAROUND TIME (Receipt to results available) | CHARGE A$ |
| N-Acetylaspartic acid (NAA) | GC/MS profile | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Acylcarnitines | Tandem mass spectrometry profile | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing* | |
| Acylcarnitines | Tandem MS quantification | 3-7 days | $200 | |
| Acylglycines | GC/MS profile | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Amino acids (quantitative as part of metabolic profile) | Tandem MS quantification | 2-3 days | Part of metabolic profile, amino acid Medicare item 66756 | |
| Amino acids quantitation | UPLC quantification | 1-2 days | $100, Medicare item 66756 | |
| Amino acids quantitation | UPLC quantification | 1-2 days | $100, Medicare item 66756 | |
| Biotinidase screen | Qualitative enzyme assay | 7-10 days | $120 | |
| Carnitine (includes acylcarnitines) | Tandem MS quantification | 3-7 days | $200 | |
| Carnitine palmitoyl transferase I | Enzymatic/ Tandem MS quantification | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing* | |
| Carnitine palmitoyl transferase II | Enzymatic/ Tandem MS quantification | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing for fibroblasts* | |
| Carnitine uptake | Intact cell uptake of carnitine | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing* | |
| Creatine and Guanidinoacetate
| Tandem MS quantification | 1-2 weeks | Plasma $200 | |
| Creatine and Guanidinoacetate (quantitative as part of metabolic profile) | Tandem MS quantification | 2-3 days | Part of metabolic profile, amino acid Medicare item 66756 | |
| Cystine in white blood cells (Diagnosis and monitoring of cystinosis) | Tandem MS quantification | 3-4 weeks | $300 | |
| 7‑Dehydrocholesterol | Metabolites are light sensitive. | GC/MS screen and quantitation. | 1-2 weeks | $175 |
| Dihydropteridine reductase (DHPR) | Spectrophotometric | 1-2 weeks | $150 | |
| Fatty acid oxidation screen by acylcarnitine analysis | Tandem MS and quantification | 4-6 weeks dependent on cell growth. | $350 + culture and storage pricing* | |
| Glutarate | GC/MS screen- part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Glycine | Tandem MS quantification- part of metabolic screen | 2-3 days | Part of metabolic profile, amino acid Medicare item 66756 | |
| Glycine | UPLC quantification | 1-2 days | $100, Medicare item 66756 | |
| Glycine | (CSF and plasma must be a paired collection within 2 hours of each other) | UPLC quantification | 1-2 days | $100, Medicare item 66756 |
| Glycosaminoglycans screen (MPS) | Quantitative DMB dye binding assay - part of metabolic screen | 2-3 days | Part of metabolic profile | |
| Glycosaminoglycans (MPS) | Tandem Mass Spectrometry identification of individual species (Referred test to South Australia) | 1-2 weeks | $162 | |
| Hexanoylglycine | GC/MS profile - part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Homocysteine, total | Tandem MS quantification | 5-7 days | $100 | |
| Homocystine | Tandem MS quantification- part of metabolic screen | 2-3 days | Part of metabolic profile, amino acid Medicare item 66756 | |
| Homocystine (free) | (samples for plasma homocystine require freezing within 20 minutes of collection) | UPLC quantification | 1-2 days | $100 |
| Homogentisic acid | GC/MS profile - part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| 4‑Hydroxybutyrate | GC/MS profile - part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Lactate (qualitative) | GC/MS profile - part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Long chain 3‑hydroxyacyl CoA dehydrogenase (LCHAD) | Specific enzyme assay on sonicated cells | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing* | |
| Malonic acid | GC/MS quant. – stable isotope dilution | 2-3 days | $175 | |
| Metabolic screen | Includes an Amino Acid quantitation, Creatine metabolites, selected Purines and pyrimidines, Piperidine-6-carboxylate. GAG screen and Organic Acids. | 2-3 days | Metabolic profile, amino acid Medicare item 66756, organic acids charge $75 | |
| Methylmalonic acid (note we do not offer this service for the investigation of vitamin B12 deficiency.) | Tandem MS quantification | $200 | ||
| Methylmalonic acid (qualitative) | GC/MS profile - part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Mucopolysaccharides screen (MPS) | Quantitative DMB dye binding assay - part of metabolic screen | 2-3 days | Part of metabolic profile | |
| Mucopolysaccharides (MPS) | Tandem Mass Spectrometry identification of individual species (Referred test to South Australia) | 1-2 weeks | $162 | |
| N-acetylaspartic acid (NAA) | GC/MS profile - part of metabolic screen | 2-3 days | Part of metabolic profile, organic acids charge $75 | |
| Ornithine | UPLC quantification | 1-2 days | $100 | |
| Orotic acid | Tandem MS quantification- part of metabolic screen | 2-3 days | Part of Metabolic profile, amino acid Medicare item 66756, organic acids charge $75 | |
| Phosphoethanolamine | Urine or | UPLC quantification | 1-2 days | $100 |
| Pipecolic acid | Tandem MS quantification- part of metabolic screen | 2-3 days | Part of metabolic profile, amino acid Medicare item 66756 | |
| Piperideine-6-carboxylate screen | Tandem MS quantification- part of metabolic screen | 2-3 days | Part of metabolic profile, amino acid Medicare item 66756 | |
| Protein Load Test (orotate) | Timed Urine | GC/MS quant. – stable isotope dilution | 1-2 weeks | $175 per sample |
| Purines and Pyrimidines (includes 2-deoxyuridine, adenine, AICAR, Guanosine, Hypoxanthine, Thymidine and Xanthine) | Tandem MS quantification- part of metabolic screen | 2-3 days | Part of Metabolic profile, amino acid Medicare item 66756, organic acids charge $75 | |
| Short-chain 3‑hydroxyacyl CoA dehydrogenase (SCHAD) | Specific enzyme assay on sonicated cells | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing* | |
| Succinylacetone (protect samples from light) | GC/MS profile - part of metabolic screen | 2-3 days | Part of Metabolic profile, organic acids charge $75 | |
| S‑Sulphocysteine | Tandem MS quantification- part of metabolic screen | 2-3 days | Metabolic profile, amino acid Medicare item 66756 | |
| Transferrin Isoforms | Capillary electrophoresis | 5-7 days | $210 | |
| Very long-chain acyl-CoA dehydrogenase (vLCAD) | Specific enzyme assay on sonicated cells | 8-12 weeks dependent on cell growth. | $350 + culture and storage pricing for fibroblasts* | |
| Very long chain fatty acids (VLCFA) includes Phytanate and Pristanate | GC/MS quant. – stable isotope dilution | 7-10 days | $175 | |
| White cell Cystine (Diagnosis and monitoring of cystinosis) | Tandem MS quantification | 3-4 weeks | $300 |