| Sample Preparation |
$ (AUD) |
| Leucocyte preparation (for enzyme assay) .................................................................. |
50.00 |
| DNA preparation (from leucocytes, blood or cultured cells) ........................................... |
70.00 |
|
| Cell Culture | |
| Establish culture from patient biopsy and indefinite storage .......................................... |
370.00 |
| Maintenance culture (fibroblasts received) .................................................................. |
250.00 |
|
| Enzyme Assays | |
| Leucocyte lysosomal enzymes | |
| - (set of 14 for the neurolipidoses screen) ................................................................... |
300.00 |
|
| Single colorimetric/fluorimetric assay |
110.00 |
- Acid phosphatase
- N-acetyl-galactosaminidase
- Arylsulphatase A
- Catalase (x2)
- Galactose-phosphate uridyl transferase (standard assay)
- ß-galactosidase
- Glucose-6-phosphatase
- a-glucosidase
- ß-glucuronidase
- a-hexosaminidase
- ß-hexosaminidase (Total or isoenzyme A)
- a-mannosidase
- a-fucosidase
- 4MU-sulphatase
- Neuraminidase
- Palmitoyl-protein thioesterase
- Phosphomannomutase
- Phosphomannose isomerase
- Phosphorylase
- Phosphorylase 'b' kinase
- Total phosphorylase
- Tripeptidyl peptidase I
|
|
| Single radiolabelled substrate (WCH synthesised) |
265.00 |
- All enzymes of mucopolysaccharide (MPS) catabolism
(includes MPS I, II, IIIA, IIIB, IIIC, IIID, IV, VI and glucuronate-2-sulphatase)
- Ceramidase
- ß-galactocerebrosidase
- ß-glucocerebrosidase
- Neuraminidase
- Phytanic acid oxidase
- Sulphatidase
- Trihexosylceramidase
|
|
| Single radiolabelled substrate (commercial) |
265.00 |
- Acid lipase
- Acid maltase
- Alanine:glyoxylate amnotransferase (AGT)
- Carbamoyl phosphate synthetase
- Debranching enzyme
- Steroid (DHEAS) sulphatase
- Dihydroxyacetone phosphate acyl transferase
- Dihydroxyacetone phosphate alkyl synthase
- Galactose-phosphate uridyl transferase (prenatals only)
- Glycerol kinase
- HGPRT'ase and APRT'ase
- Ornithine transcarbamylase
- Sphingomyelinase
|
|
| Chitotriosidase |
70.00 |
|
| Analysis of enzyme activities in blood spots |
265.00 |
|
|
|
| Analysis of enzyme protein levels and enzyme kinetic studies |
| a-L-iduronidase protein levels ............................................................................. |
150.00 |
| N-acetylgalactosamine-4-sulphatase protein levels .............................................. |
150.00 |
| a-L-iduronidase kinetic studies .......................................................................... |
900.00 |
|
| Lipid Analyses | |
| Very long chain fatty acids (VLCFA) analysis ............................................................... |
160.00 |
| Phytanic acid analysis ............................................................................................... |
160.00 |
| Bile alcohols, bile acids ............................................................................................. |
370.00 |
| Complex lipid analysis by TLC/GLC ............................................................................ |
370.00 |
| Plasmalogens (erythrocyte) ....................................................................................... |
310.00 |
| Sulphatide in urine .................................................................................................... |
300.00 |
| C27 trihydroxycholestanoic acid ................................................................................. |
370.00 |
|
| Molecular Diagnoses | |
| Single mutation analysis............................................................................................ |
160.00 |
| (most lysosomal, peroxisomal and related disorders require analysis of several
mutations; the costs will reflect the number of separate PCR reactions used to test for the mutation set) | |
| Mutation search for autosomal recessive disorders (except Niemann-Pick disease type C) |
1,800.00 |
| Mutation search for Niemann-Pick disease type C ........................................................ |
2,500.00 |
| Cystic fibrosis (maximum of 13 mutations) ................................................................... |
300.00 |
| RFLP/linkage analysis (per locus, per nuclear family) .................................................... |
500.00 |
| Southern analysis ...................................................................................................... |
850.00 |
|
| Other Special Tests |
|
| Acylcarnitine profile .................................................................................................... |
66.00 |
| Amino acid profile (urine or plasma) ............................................................................. |
77.00 |
| Carnitine (plasma) ...................................................................................................... |
83.00 |
| Carnitine (muscle) ...................................................................................................... |
105.00 |
| Carnitine palmitoyl transferase I or II ............................................................................ |
220.00 |
| Cholesterol esterification in fibroblasts ......................................................................... |
360.00 |
| Cis-4-decanoic acid .................................................................................................... |
70.00 |
| 7-Dehydrocholesterol (including cholesterol) ................................................................. |
270.00 |
| Dried blood spot analysis (includes acylcarnitine and amino acid profiles) ....................... |
66.00 |
| Dynamic radiotracer studies in cultured cells (eg, citrullinaemia, cystinosis) ................... |
360.00 |
| Filipin stain for fibroblast perinuclear cholesterol ........................................................... |
150.00 |
| Free fatty acids (CMB charge) .................................................................................... |
50.00 |
| Galactokinase (erythrocytes) ...................................................................................... |
110.00 |
| Galactosaemia GUT'ase typing .................................................................................. |
200.00 |
| Glycogen (quantitative) ............................................................................................. |
95.00 |
| Oligosaccharide analysis (qualitative) ........................................................................ |
145.00 |
| Organic acid profile (urine or plasma) ......................................................................... |
110.00 |
| Sialic acid (quantitative) ........................................................................................... |
250.00 |
| Transferrin isoforms ................................................................................................. |
140.00 |
| Urine MPS screening test ........................................................................................ |
105.00 |
|
| Prenatal Tests | |
| The same charge is applied for all prenatal assessments, independent of whether mutation or biochemical analysis is used. This charge also includes maternal cell contamination studies as required.
|
| | |
| Prenatal analysis |
1,500.00 |
| |
