Cancer Genetics, Therapeutics & Ultrastructural Pathology Department (Code 31)

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 
/test
85 Hereditary colon cancer NGS panel 21 genes
/test
86 Comprehensive hereditary cancer NGS panel 37 genes
/test
87 NGS panel for primary cilliary diskinisia 33 genes 
/test
88 Somatic hotspot cancer panel for selection of targeted therapies 
/test
89 RNA lung cancer panel (fusions, translocations) 
/test
90/90.1 Whole Exome Sequencing-WES  /test
/family trio
91 Sanger sequencing for confirmation of NGS result  /test

 

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