| 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 |
- N-acetyl-galactosaminidase
- Arylsulphatase A
- Catalase
- a-galactosidase
- b-galactosidase
- Glucose-6-phosphatase
- a-glucosidase
- b-glucuronidase
- b-hexosaminidase (Total or isoenzyme A)
- a-mannosidase
- a-fucosidase
- 4MU-sulphatase
- Neuraminidase
- Palmitoyl-protein thioesterase
- Phosphomannomutase
- Phosphomannose isomerase
- 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
- b-galactocerebrosidase
- b-glucocerebrosidase
- Neuraminidase
- Phytanic acid oxidation
- Sulphatidase
- Trihexosylceramidase
|
|
| Single radiolabelled substrate (commercial) |
265.00 |
- Acid lipase
- Acid maltase
- Carbamoyl phosphate synthetase
- Debranching enzyme
- DHEAS (Steroid) sulphatase
- Dihydroxyacetone phosphate acyl transferase
- Dihydroxyacetone phosphate alkyl synthase
- Galactose-phosphate uridyl transferase (prenatals only)
- HGPRT'ase
- Ornithine transcarbamylase
- Phosphorylase
- Phosphorylase 'b' kinase
- Total phosphorylase
- Sphingomyelinase
|
|
| Analysis of enzyme activities in blood spots |
265.00 |
|
|
|
| Chitotriosidase |
70.00 |
|
| 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 acid intermediates .......................................................................... |
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 Testing | |
Screens for common mutations for the disorders diagnosed in the National Referral Laboratory require either 1, 2 or 3 PCR reactions (as indicated for each disease in the "Tests, Specimens and Diagnostic Record" page) and are charged as shown below.
Testing for one known mutation within a family requires 1 PCR, whereas testing for two mutations within a family requires 2 PCR.
| |
| Mutation testing (1 PCR) ............................................................................................ |
160.00 |
| Mutation testing (2 PCR) ............................................................................................ |
320.00 |
| Mutation testing (3 PCR) ............................................................................................ |
480.00 |
| . | |
| Mutation search studies involve the amplification and sequencing of all coding exons and the intron/exon boundaries. The majority are charged at a "standard" gene price. A number of large genes (>20 exons in size) are charged at the "large" gene price. The gene size is indicated for each disease in the "Tests, Specimens and Diagnostic Record" page, with the charges shown below.
| |
| Mutation search analysis (standard) ............................................................................ |
1,800.00 |
| Mutation search analysis (large) .................................................................................. |
2,500.00 |
| . | |
| Cystic fibrosis (maximum of 13 mutations) ................................................................... |
300.00 |
|
| Other Special Tests |
|
| Acylcarnitine profile .................................................................................................... |
88.00 |
| 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 |
| 7-Dehydrocholesterol (including cholesterol) or 8(9)-cholestenol...................................... |
270.00 |
| Dried blood spot analysis (includes acylcarnitine and amino acid profiles) ....................... |
88.00 |
| 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 |
| 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 |
| |
