Example of microdissection genotyping, manifesting perfect concordance of mutational change between cytological samples (by both the CA method and the WGA approach) and the surgical specimen
| Gene | Non-neoplastic tissue | Positive cytology (CA)* | Positive cytology (WGA) | Positive cytology (WGA) | Histology tumour |
|---|---|---|---|---|---|
| *CA, collective assembly in which multiple discrete clusters of target cells are aggregated together into one common pool from which aliquots are taken for broad panel mutational genotyping. | |||||
| †WGA, whole genome amplification in which a single cluster of cells is first subject to general amplification using random oligonucleotide primers. | |||||
| NI, non-informative marker status (see materials and methods for further details); I, informative marker. | |||||
| RIZ | NI | NI | NI | NI | NI |
| RIZ | I | LOH T | LOH T | LOH T | LOH T |
| VHL | I | LOH B | LOH B | LOH B | LOH B |
| VHL | NI | NI | NI | NI | NI |
| APC | I | No LOH | No LOH | No LOH | No LOH |
| APC | I | No LOH | No LOH | No LOH | No LOH |
| P16 | I | No LOH | No LOH | No LOH | No LOH |
| P16 | I | No LOH | No LOH | No LOH | No LOH |
| PTEN | I | LOH B | LOH B | LOH B | LOH B |
| PTEN | I | LOH B | LOH B | LOH B | LOH B |
| KRAS | No MUT | 12G-R | 12G-R | 12G-R | 12G-R |
| P53 | NI | NI | NI | NI | NI |
| P53 | I | LOH T | LOH T | LOH T | LOH T |