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
N-Acetylaspartic acid (NAA)
Sample: Urine (see requirements)
Method: GC/MS profile
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Acylcarnitines (skin fibroblasts)
Sample: Skin fibroblasts (see requirements)
Method: Tandem mass spectrometry profile
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing*
Acylcarnitines (plasma)
Sample: Plasma (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 3-7 days
Fee: $200
Acylglycines
Sample: Urine (see requirements)
Method: GC/MS profile
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Amino acids (quantitative as part of metabolic profile)
Sample: Urine (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, amino acid Medicare item 66756
Amino acids quantitation (plasma)
Sample: Plasma (see requirements)
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100, Medicare item 66756
Amino acids quantitation (CSF)
Sample: CSF (see requirements)
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100, Medicare item 66756
Biotinidase screen
Sample: Dried Blood Spot (see requirements)
Method: Qualitative enzyme assay
Typical turnaround time: 7-10 days
Fee: $120
Carnitine (includes acylcarnitines)
Sample: Plasma (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 3-7 days
Fee: $200
Carnitine palmitoyl transferase I
Sample: Skin fibroblasts (see requirements)
Method: Enzymatic/ Tandem MS quantification
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing*
Carnitine palmitoyl transferase II
Sample: Skin fibroblasts/Fresh lymphocytes (see requirements)
Method: Enzymatic/ Tandem MS quantification
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing for fibroblasts*
Carnitine uptake
Sample: Skin fibroblasts (see requirements)
Method: Intact cell uptake of carnitine
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing*
Creatine and Guanidinoacetate
Sample: Plasma (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 1-2 weeks
Fee: $200
Creatine and Guanidinoacetate (quantitative as part of metabolic profile)
Sample: Urine (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, amino acid Medicare item 66756
Cystine in white blood cells (diagnosis and monitoring of cystinosis)
Sample: White cell pellet (see these instructions)
Method: Tandem MS quantification
Typical turnaround time: 3-4 weeks
Fee: $300
7‑Dehydrocholesterol
Sample: Plasma (see requirements). Note: metabolites are light sensitive
Method: GC/MS screen and quantitation
Typical turnaround time: 1-2 weeks
Fee: $175
Dihydropteridine reductase (DHPR)
Sample: Dried Blood Spot (see requirements)
Method: Spectrophotometric
Typical turnaround time: 1-2 weeks
Fee: $150
Fatty acid oxidation screen by acylcarnitine analysis
Sample: Skin fibroblasts (see requirements)
Method: Tandem MS and quantification
Typical turnaround time: 4-6 weeks dependent on cell growth
Fee: $350 + culture and storage pricing*
Glutarate
Sample: Urine (see requirements)
Method: GC/MS screen- part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Glycine (urine)
Sample: Urine (see requirements)
Method: Tandem MS quantification-part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, amino acid Medicare item 66756
Glycine (plasma)
Sample: Plasma (see requirements)
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100, Medicare item 66756
Glycine (CSF)
Sample: CSF (see requirements). Note: CSF and plasma must be a paired collection within 2 hours of each other
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100, Medicare item 66756
Glycosaminoglycans screen (MPS)
Sample: Urine (see requirements)
Method: Quantitative DMB dye binding assay - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile
Glycosaminoglycans (MPS) (tandem MS identification)
Sample: Urine (see requirements)
Method: Tandem Mass Spectrometry identification of individual species (Referred test to South Australia)
Typical turnaround time: 1-2 weeks
Fee: $162
Hexanoylglycine
Sample: Urine (see requirements)
Method: GC/MS profile - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Homocysteine, total
Sample: Plasma (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 5-7 days
Fee: $100
Homocystine
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, amino acid Medicare item 66756
Homocystine (free)
Sample: Plasma (see requirements). Note: samples for plasma homocystine require freezing within 20 minutes of collection.
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100
Homogentisic acid
Sample: Urine (see requirements)
Method: GC/MS profile - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
4‑Hydroxybutyrate
Sample: Urine (see requirements)
Method: GC/MS profile - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Lactate (qualitative)
Sample: Urine (see requirements)
Method: GC/MS profile - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Long chain 3‑hydroxyacyl CoA dehydrogenase (LCHAD)
Sample: Skin fibroblasts (see requirements)
Method: Specific enzyme assay on sonicated cells
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing*
Malonic acid
Sample: Urine (see requirements)
Method: GC/MS quant. – stable isotope dilution
Typical turnaround time: 2-3 days
Fee: $175
Metabolic screen
Sample: Urine (see requirements)
Method: Includes an Amino Acid quantitation, Creatine metabolites, selected Purines and pyrimidines, Piperidine-6-carboxylate. GAG screen and Organic Acids.
Typical turnaround time: 2-3 days
Fee: 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.
Sample: Plasma (see requirements)
Method: Tandem MS quantification
Typical turnaround time: 2-3 days
Fee: $200
Methylmalonic acid (qualitative)
Sample: Urine (see requirements)
Method: GC/MS profile - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Mucopolysaccharides screen (MPS)
Sample: Urine (see requirements)
Method: Quantitative DMB dye binding assay - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile
Mucopolysaccharides (MPS)
Sample: Urine (see requirements)
Method: Tandem Mass Spectrometry identification of individual species (Referred test to South Australia)
Typical turnaround time: 1-2 weeks
Fee: $162
N-acetylaspartic acid (NAA)
Sample: Urine (see requirements)
Method: GC/MS profile - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, organic acids charge $75
Ornithine
Sample: Plasma (see requirements)
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100
Orotic acid
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of Metabolic profile, amino acid Medicare item 66756, organic acids charge $75
Phosphoethanolamine
Sample: Urine or Plasma (see requirements)
Method: UPLC quantification
Typical turnaround time: 1-2 days
Fee: $100
Pipecolic acid
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, amino acid Medicare item 66756
Piperideine-6-carboxylate screen
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of metabolic profile, amino acid Medicare item 66756
Protein Load Test (orotate)
Sample: Timed Urine
Method: GC/MS quant. – stable isotope dilution
Typical turnaround time: 1-2 weeks
Fee: $175 per sample
Purines and Pyrimidines
Note: includes 2-deoxyuridine, adenine, AICAR, Guanosine, Hypoxanthine, Thymidine and Xanthine.
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of Metabolic profile, amino acid Medicare item 66756, organic acids charge $75
Short-chain 3‑hydroxyacyl CoA dehydrogenase (SCHAD)
Sample: Skin fibroblasts (see requirements)
Method: Specific enzyme assay on sonicated cells
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing*
Succinylacetone (protect samples from light)
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Part of Metabolic profile, organic acids charge $75
S‑Sulphocysteine
Sample: Urine (see requirements)
Method: Tandem MS quantification - part of metabolic screen
Typical turnaround time: 2-3 days
Fee: Metabolic profile, amino acid Medicare item 66756
Transferrin Isoforms
Sample: Serum (see requirements)
Method: Capillary electrophoresis
Typical turnaround time: 5-7 days
Fee: $210
Very long-chain acyl-CoA dehydrogenase (vLCAD)
Sample: Skin fibroblasts/Fresh lymphocytes (see requirements)
Method: Specific enzyme assay on sonicated cells
Typical turnaround time: 8-12 weeks dependent on cell growth
Fee: $350 + culture and storage pricing for fibroblasts*
Very long chain fatty acids (VLCFA)
Note: includes Phytanate and Pristanate.
Sample: Plasma (see requirements)
Method: GC/MS quant - stable isotope dilution
Typical turnaround time: 7-10 days
Fee: $175
White cell Cystine (Diagnosis and monitoring of cystinosis)
Sample: White cell pellet (see these instructions)
Method: Tandem MS quantification
Typical turnaround time: 3-4 weeks
Fee: $300