NSW Biochemical Genetics Service

Tests Available

An alphabetical list of tests available is shown below.

ASSAY	SAMPLE	METHOD	CHARGE A$ (from 01/01/2011)
Acetoacetyl-CoA thiolase (mitochondrial	Skin fibroblasts	Specific enzyme assay on sonicated cells	$350
N-Acetylaspartic acid (NAA)	Urine	GC/MS profile	Part of metabolic profile $200
Acylcarnitines	Dried Blood Spot	Tandem mass spectrometry profile and quantitation of free and acetylcarnitine and any abnormal acylcarnitine species.	$200
Acylcarnitines	Skin fibroblasts	Tandem mass spectrometry profile	$350
Acylcarnitines	Plasma	Tandem MS quantification	$200
Acylglycines	Urine	GC/MS profile	Part of metabolic profile $200
Amino acids (as part of metabolic profile)	Urine	High voltage electrophoresis profile	Part of metabolic profile $200
Amino acids	Plasma	Cation‑exchange quantification	$100
Amino acids	CSF	Cation‑exchange quantification	$100
Amino acids	Amniotic Fluid	Cation‑exchange quantification	$100
Biotinidase screen	Dried Blood Spot	Qualitative enzyme assay	$120
Carnitine	Plasma	Tandem MS quantification	$200
Carnitine palmitoyl transferase I	Skin fibroblasts/Fresh lymphocytes	Enzymatic/ Tandem MS quantification	$350
Carnitine palmitoyl transferase II	Skin fibroblasts/Fresh lymphocytes	Enzymatic/ Tandem MS quantification	$350
Carnitine uptake	Skin fibroblasts	Intact cell uptake of carnitine	$350
Cystine, Lysine, Ornithine, & Arginine (Cystine screening and monitoring are carried out by the Dept of Clinical Biochemistry, Royal Prince Alfred Hospital Our department confims each provisional diagnosis of cystinuria made by RPAH)	Urine	Cation‑exchange quantification	$100
Creatine and Guanidinoacetate (Urine is preferred sample for diagnosis of x-linked creatine transporter defect)	Plasma or Urine	Tandem MS quantification	Plasma $200 Urine $225
7‑Dehydrocholesterol	Plasma Metabolites are light sensitive.	GC/MS screen	$175
Dihydropteridine reductase (DHPR)	Dried Blood Spot	Spectrophotometric	$150
Fatty acid oxidation screen by acylcarnitine analysis	Skin fibroblasts	Tandem MS and quantification	$350
Glutarate	Urine	GC/MS screen- part of metabolic screen	Part of metabolic profile $200
Glutarate	Plasma	GC/MS quant. - stable isotope dilution	$175
Glutarate	Amniotic fluid	GC/MS quant. - stable isotope dilution	$175
Glycine	Urine	HVE profile	Part of metabolic profile $200
Glycine	Plasma	Cation‑exchange quantification	$100
Glycine	CSF (CSF and plasma must be a paired collection within 1 hour of each other)	Cation‑exchange quantification	$100
Glycosaminoglycans (MPS)	Urine	Quantitative DMB dye binding assay - part of metabolic screen	Part of metabolic profile $200
Glycosaminoglycans (MPS)	Urine	High resolution electrophoresis	$340
Hexanoylglycine	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
Homocysteine, total	Plasma	Tandem MS quantification	$100
Homocystine	Urine	HVE profile - part of metabolic screen	Part of metabolic profile $200
Homocystine	Plasma (samples for plasma homocystine require freezing within 20 minutes of collection)	Cation‑exchange quantification	$100
Homogentisic acid	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
4‑Hydroxybutyrate	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
Lactate (qualitative)	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
Long chain 3‑hydroxyacyl CoA dehydrogenase (LCHAD)	Skin fibroblasts	Specific enzyme assay on sonicated cells	$350
Long chain 3‑hydroxyacyl CoA dehydrogenase (LCHAD)#	CVS#	Specific enzyme assay on sonicated cells	$350
Malonic acid	Amniotic fluid	GC/MS quant. - stable isotope dilution	$175
Malonic acid	Urine	GC/MS quant. - stable isotope dilution	$175
MCAD DNA common mutation	Dried Blood Spot	DNA/PCR (performed by NSW Newborn Screening Programme)	N/A
Metabolic screen	Urine	Includes an Amino Acid profile, Methylmalonic acid screen, GAG screen and Organic Acids.	$200
Methylmalonic acid	Plasma	Tandem MS quantification	$200
Methylmalonic acid	Amniotic fluid	Tandem MS quantification	$200
Methylmalonic acid (qualitative)	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
Mucopolysaccharides (MPS)	Urine	Quantitative DMB dye binding assay - part of metabolic screen	Part of metabolic profile $200
Mucopolysaccharides (MPS)	Urine	High resolution electrophoresis	$340
N-acetylaspartic acid (NAA)	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
Ornithine	Plasma	Cation‑exchange quantification	$100
Orotic acid	Urine	Qualitative Screen - GC/MS profile - part of metabolic screen	Part of metabolic profile $200
Orotic acid	Urine	GC/MS quant. - stable isotope dilution	$175
Phosphoethanolamine	Urine or Plasma	Cation‑exchange quantification	$100
Pipecolic acid (qualitative)	Urine	HVE profile - part of metabolic screen	Part of metabolic profile $200
Protein Load Test (orotate)	Timed Urine- see protocol.	GC/MS quant. - stable isotope dilution	$175 per sample
Short-chain 3‑hydroxyacyl CoA dehydrogenase (SCHAD)	Skin fibroblasts	Specific enzyme assay on sonicated cells	$350
Succinylacetone (protect samples from light)	Urine	GC/MS profile - part of metabolic screen	Part of metabolic profile $200
S‑Sulphocysteine	Urine	HVE profile - part of metabolic screen	Part of metabolic profile $200
S‑Sulphocysteine	Urine	Cation‑exchange quantification	$100
Transferrin Isoforms	Serum	Capillary electrophoresis	$210
Very long-chain acyl-CoA dehydrogenase (vLCAD)	Skin fibroblasts	Specific enzyme assay on sonicated cells	$350
Very long chain fatty acids (VLCFA) includes Phytanate and Pristanate	Plasma	GC/MS quant. - stable isotope dilution	$175