Tests available

An alphabetical list of tests available is shown below.

ASSAY

SAMPLE

METHOD

TYPICAL TURNAROUND TIME

(Receipt to results available)

CHARGE  A$
(current at February 2017)

N-Acetylaspartic acid (NAA)

Urine

GC/MS profile

2-3 days

Part of metabolic profile, organic acids charge $75

Acylcarnitines

Skin fibroblasts

Tandem mass spectrometry profile

8-12 weeks dependent on cell growth.

$350

Acylcarnitines

Plasma

Tandem MS quantification

3-7 days

$200

Acylglycines

Urine

GC/MS profile

2-3 days

Part of metabolic profile, organic acids charge $75

Amino acids (quantitative as part of metabolic profile)

Urine

Tandem MS quantification

2-3 days

Part of metabolic profile, amino acid Medicare item 66756

Amino acids quantitation

Plasma

 UPLC quantification

1-2 days

$100, Medicare item 66756

Amino acids quantitation

CSF

 UPLC quantification

1-2 days

$100, Medicare item 66756

Biotinidase screen

Dried Blood Spot

Qualitative enzyme assay

7-10 days

$120

Carnitine (includes acylcarnitines)

Plasma

Tandem MS quantification

3-7 days

$200

Carnitine palmitoyl transferase I

Skin fibroblasts

Enzymatic/ Tandem MS quantification

8-12 weeks dependent on cell growth.

$350

Carnitine palmitoyl transferase II

Skin fibroblasts/Fresh lymphocytes

Enzymatic/ Tandem MS quantification

8-12 weeks dependent on cell growth.

$350

Carnitine uptake

Skin fibroblasts

Intact cell uptake of carnitine

8-12 weeks dependent on cell growth.

$350

Creatine and Guanidinoacetate

 

Plasma

Tandem MS quantification

1-2 weeks

Plasma $200

Creatine and Guanidinoacetate 

(quantitative as part of metabolic profile)

Urine

 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)

White cell pellet

See these instructions

Tandem MS quantification

3-4 weeks

$300

7‑Dehydrocholesterol

Plasma

Metabolites are light sensitive.

GC/MS screen and quantitation.

1-2 weeks

$175

Dihydropteridine reductase (DHPR)

Dried Blood Spot

Spectrophotometric

1-2 weeks

$150

Fatty acid oxidation screen by acylcarnitine analysis

Skin fibroblasts

Tandem MS and quantification

4-6 weeks dependent on cell growth.

$350

Glutarate

Urine

GC/MS screen- part of metabolic screen

2-3 days

Part of metabolic profile, organic acids charge $75

Glycine

Urine

Tandem MS quantification-

part of metabolic screen

2-3 days

Part of metabolic profile, amino acid Medicare item 66756

Glycine

Plasma

 UPLC quantification

1-2 days

$100, Medicare item 66756

Glycine

CSF

(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)

Urine

Quantitative DMB dye binding assay - part of metabolic screen

2-3 days

Part of metabolic profile

Glycosaminoglycans (MPS)

Urine

Tandem Mass Spectrometry identification of individual species (Referred test to South Australia)

1-2 weeks

$162

Hexanoylglycine

Urine

GC/MS profile - part of metabolic screen

2-3 days

Part of metabolic profile, organic acids charge $75

Homocysteine, total

Plasma

Tandem MS quantification

5-7 days

$100

Homocystine

Urine

Tandem MS quantification-

part of metabolic screen

2-3 days

Part of metabolic profile, amino acid Medicare item 66756

Homocystine (free)

Plasma

(samples for plasma homocystine require freezing within 20 minutes of collection)

 UPLC quantification

1-2 days

$100

Homogentisic acid

Urine

GC/MS profile - part of metabolic screen

2-3 days

Part of metabolic profile, organic acids charge $75

4‑Hydroxybutyrate

Urine

GC/MS profile - part of metabolic screen

2-3 days

Part of metabolic profile, organic acids charge $75

Lactate (qualitative)

Urine

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)

Skin fibroblasts or CVS#

Specific enzyme assay on sonicated cells

8-12 weeks dependent on cell growth.

$350

Malonic acid

Urine

GC/MS quant. – stable isotope dilution

2-3 days

$175

Metabolic screen

Urine

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.)

Plasma

Tandem MS quantification

$200

Methylmalonic acid (qualitative)

Urine

GC/MS profile - part of metabolic screen

2-3 days

Part of metabolic profile, organic acids charge $75

Mucopolysaccharides screen (MPS)

Urine

Quantitative DMB dye binding assay - part of metabolic screen

2-3 days

Part of metabolic profile

Mucopolysaccharides (MPS)

Urine

Tandem Mass Spectrometry identification of individual species (Referred test to South Australia) 1-2 weeks $162

N-acetylaspartic acid (NAA)

Urine

GC/MS profile - part of metabolic screen

2-3 days

Part of metabolic profile, organic acids charge $75

Ornithine

Plasma

 UPLC quantification

1-2 days

$100

Orotic acid

Urine

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

Plasma

 UPLC quantification

1-2 days

$100

Pipecolic acid

Urine

Tandem MS quantification-

part of metabolic screen

2-3 days

Part of metabolic profile, amino acid Medicare item 66756

Piperideine-6-carboxylate screen

Urine

 

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

See protocol.

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)

Urine

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)

Skin fibroblasts

Specific enzyme assay on sonicated cells

8-12 weeks dependent on cell growth.

$350

Succinylacetone (protect samples from light)

Urine

GC/MS profile - part of metabolic screen

2-3 days

Part of Metabolic profile, organic acids charge $75

S‑Sulphocysteine

Urine

Tandem MS quantification-

part of metabolic screen

2-3 days

Metabolic profile, amino acid Medicare item 66756

Transferrin Isoforms

Serum

Capillary electrophoresis

5-7 days

$210

Very long-chain acyl-CoA dehydrogenase (vLCAD)

Skin fibroblasts/Fresh lymphocytes

Specific enzyme assay on sonicated cells

8-12 weeks dependent on cell growth.

$350

Very long chain fatty acids (VLCFA) includes Phytanate and Pristanate

Plasma

GC/MS quant. – stable isotope dilution

7-10 days

$175

White cell Cystine (Diagnosis and monitoring of cystinosis)

White cell pellet

Tandem MS quantification

3-4 weeks

$300