Test |
Disease |
Gene |
Tissue |
Test Number |
| 5-FLUORO
URACIL TOXICITY |
VARIOUS |
ALLELE
2A (IVS14+1G-A) IN DPD (DIHYDROPYRIMIDINE DEHYDROGENASE) |
DNA |
1 |
| ALLELES *3,*4, *5A, *7, *8, *9, *10, *12, *13, M166V, R886H IN DPD (DIHYDROPYRIMIDINE DEHYDROGENASE) |
DNA |
2 |
IRINOTECAN
TOXICITY
|
VARIOUS |
TA
INSERTION IN PROMOTOR OF UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE) |
DNA |
3 |
THIOPURINE
TOXICITY
|
VARIOUS |
ALLELES
1, 2, 3A, 3C IN TMPT (THIOPURINE S-METHYLTRANSFERASE) |
DNA |
4 |
| HERCEPTIN
RESPONSIVENESS |
BREAST
CANCER |
HER2
/ NEU OVEREXPRESSION |
PARAFFINISED
BREAST TUMOUR TISSUE |
5 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
CHRONIC
MYELOGENOUS LEUKEMIA (CML) AND ACUTE LEUKEMIA |
EXONS
4-10 MUTATIONS IN ABL (INCLUDING T315I) |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
6 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
CHRONIC
MYELOGENOUS LEUKEMIA (CML) AND ACUTE LEUKEMIA |
FUSION
OF ABL TO BCR |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
7 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
ACUTE LEUKEMIA |
FUSION OF PDGFRB TO TEL/ETV6 |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
8 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
HYPEREOSINOPHILIC SYNDROME |
FUSION OF PDGFRB TO TEL/ETV6 |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
8 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
HYPEREOSINOPHILIC SYNDROME |
del(4)(q12q12) WITH FIP1L1-PDGFRA FUSION |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
9 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
CHRONIC EOSINOPHILIC LEUKEMIA |
del(4)(q12q12) WITH FIP1L1-PDGFRA FUSION |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
9 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
ACUTE MYELOID LEUKEMIA |
MUTATIONS IN EXONS 8, 11 AND 17 IN KIT |
WHOLE BLOOD, BONE MARROW ASPIRATE OR PARAFFIN-EMBEDDED BIOPSY |
10 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
MASTOCYTOSIS |
MUTATIONS IN EXON 17 IN KIT |
PARAFFINISED TUMOUR TISSUE |
11 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
MAST CELL LEUKEMIA |
MUTATIONS IN EXON 17 IN KIT |
WHOLE BLOOD, BONE MARROW ASPIRATE OR PARAFFIN-EMBEDDED BIOPSY |
11 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
GASTROINTESTINAL STROMAL TUMOR, GIST |
MUTATIONS IN EXONS 9, 11, 13 AND 17 IN KIT |
PARAFFINISED TUMOUR TISSUE |
12 |
| GLEEVEC /
IMATINIB RESPONSIVENESS |
GASTROINTESTINAL STROMAL TUMOR, GIST |
MUTATIONS IN EXONS 12 AND 18 IN PDGFRA |
PARAFFINISED TUMOUR TISSUE |
13 |
| IRESSA
/ GEFITINIB RESPONSIVENESS |
NON
SMALL CELL LUNG CANCER (NSCLC) |
EXON
18-21 MUTATIONS IN EGFR (EPIDERMAL GROWTH FACTOR RECEPTOR) |
FRESH
TISSUE (ETHANOL-FIXED TISSUE) |
14 |
VARIOUS
FLT3 INHIBITORS
|
ACUTE
MYELOID LEUKEMIA |
ACTIVATING MUTATION (INTERNAL TANDEM DUPLICATION) IN FLT3 (RECEPTOR
TYROSINE KINASE) |
BLOOD
OR BONE MARROW |
15 |
VARIOUS
FLT3 INHIBITORS
|
ACUTE
MYELOID LEUKEMIA |
ACTIVATING MUTATIONS IN EXON 14 IN FLT3 (RECEPTOR TYROSINE KINASE) |
BLOOD
OR BONE MARROW |
16 |
VARIOUS
FLT3 INHIBITORS
|
ACUTE
MYELOID LEUKEMIA |
EXON
20 MUTATIONS IN FLT3 (INCLUDING ASP835) |
BLOOD
OR BONE MARROW IN PAX RNA TUBES |
17 |
| BETA2-AGONISTS
RESPONSE |
VARIOUS |
R16G
AND Q27E MUTATIONS IN ADRB2 |
DNA |
18 |
ABACAVIR TOXICITY |
VARIOUS |
HLA-B*5701 |
DNA |
19 |