CODE |
TYPE OF SERVICE |
UOM |
1 |
Processing and examination of specimens in the TEM |
/test |
2 |
Examination of specimens in the TEM |
/test |
3/4 |
Use of TEM per session |
/session |
5 |
Consultation test for cancer susceptibility |
/consultation |
6/7 |
DNA extraction/storage from blood/tissue |
/extraction |
8/9 |
mRNA extraction/storage from tissue/blood |
/extraction |
10/12 |
BRCA1/BRCA2 mutation screen |
/test |
11/13 |
BRCA1/BRCA2 analysis for known mutation |
/test |
14/16 |
p53/APC mutation screen |
/test |
15/17 |
p53/APC analysis for known mutation |
/test |
18 |
Microsattelite instability (MSI) |
/test |
19/21 |
MLH1/hMLH2/MLH6 mutation screen |
/test |
20/22 |
MLH1/MLH2 analysis for known mutation |
/test |
23/25 |
PMS1/PMS2 mutation screen |
/test |
24/26 |
PMS1/PMS2 analysis for known mutation |
/test |
27 |
MSH6 mutation screen |
/test |
28 |
MSH6 analysis for known mutation |
/test |
29 |
K-ras mutation detection |
/test |
29.1 |
K-ras somatic mutation detection |
/test |
29.2 |
K-ras/N-ras somatic mutation detection (private only) |
/test |
30/31/32 |
Immunohistochemistry of MLH1/MLH2/MLH6 |
/test |
33 |
Immunohistochemistry of PMS2 |
/test |
41/43/45 |
PTEN/STK11/CHEK 2 mutation screen |
/test |
42/44/46 |
PTEN/STK11/CHEK 2 analysis for known mutation |
/test |
47/49/51 |
ATM/PALB2/BRIP1 mutation screen |
/test |
48/50/52 |
ATM//PALB2/BRIP1 analysis for known mutation |
/test |
53/55 |
CDKN2A/BRAF mutation screen |
/test |
54/56 |
CDKN2A/BRAF analysis for known mutation |
/test |
57 |
Mitochondrial DNA sequencing for a single gene |
/test |
58 |
Mitochondrial DNA analysis for known mutation |
/test |
59 |
Mitochondrial DNA southern blot for detection of multiple deletion(s), duplication(s) and depletion |
/test |
60 |
Mitochondrial DNA mutation Screen |
/test |
61 |
EGFR full gene testing |
/test |
62 |
EGFR exons 18-21 testing |
/test |
62.1 |
EGFR T790 mutation detection in circulating cell-free tumour DNA (private only) |
/test |
63 |
CFHR5 Nephropathy (private only) |
/test |
64 |
KIT mutation screen (private only) |
/test |
65 |
KIT analysis for exons 9,11,13,17 (private only) |
/test |
66 |
KIT analysis of known mutation (private only) |
/test |
67 |
PDGFRA mutation screen (private only) |
/test |
68 |
PDGFRA analysis of exons 12,18 (private only) |
/test |
69 |
PDGFRA analysis for known mutation (private only) |
/test |
70 |
CDH1 mutation screen (private only) |
/test |
71 |
CDH1 analysis for known mutation (private only) |
/test |
72/74 |
MUTYH/VHL mutation screen (private only) |
/test |
73/75 |
MUTYH/VHL analysis for known mutation (private only) |
/test |
|
Discovery proteomics LC-MS/MS: Platform 1, Synapt G2Si – nanoAcquity: |
|
76 |
1D nanoLC-MS/MS 220 min gradient (private only) |
/sample |
77 |
2D (RP-RP) nanoLC-MS/MS, 6 fractions, 150min gradient/fraction (private only) |
/sample |
78 |
Data analysis (Proteomics) (private only) |
per set of data deriving from the analysis of 10-15 samples |
|
Targeted analysis LC-MRM: Platform 2, Xevo TQD-Acquity UPLC: |
|
79 |
Method development (private only) |
|
80 |
Price per sample for pre-developed MRM assay (private only) |
|
81 |
BRCA1/2 somatic mutation detection by NGS
|
/test |
82 |
Mitochondrial nuclear gene panel by NGS >100 genes |
/test |
83 |
Mitochondrial nuclear gene panel by NGS >100 genes |
/test |
84 |
Hereditary breast and ovarian cancer NGS panel 23 |
|
85 |
Hereditary colon cancer NGS panel 21 genes |
|
86 |
Comprehensive hereditary cancer NGS panel 37 genes |
|
87 |
NGS panel for primary cilliary diskinisia 33 genes |
|
88 |
Somatic hotspot cancer panel for selection of targeted therapies |
|
89 |
RNA lung cancer panel (fusions, translocations) |
|
90/90.1 |
Whole Exome Sequencing-WES |
/test
/family trio |
91 |
Sanger sequencing for confirmation of NGS result |
/test |