Genetic studies indicated for clinical testing in MDS
| Conventional karyotype (at least 20 metaphases).∗ FISH for 17p deletion if TP53 mutation is detected. | |
| Gene mutation panel for the following genes: | |
| ASXL1 | NF1 |
| BCOR | NPM1 |
| BCORL1 | NRAS |
| CBL | PHF6 |
| CEBPA | PPM1D |
| CSF3R | PRPF8 |
| DDX41 | PTPN11 |
| DMNT3A | RAD21 |
| ETV6 | RUNX1 |
| ETNK1 | SAMD9 |
| EZH2 | SAMD9L |
| FLT3-ITD | SETBP1 |
| FLT3-TKD | SF3B1∗ |
| GATA2 | SRSF2 |
| GNB1 | STAG2 |
| IDH1 | TET2 |
| IDH2 | TP53∗ |
| JAK2 | U2AF1 |
| KIT | UBA1 |
| KRAS | WT1 |
| KMT2A-PTD | ZRSR2 |
| Conventional karyotype (at least 20 metaphases).∗ FISH for 17p deletion if TP53 mutation is detected. | |
| Gene mutation panel for the following genes: | |
| ASXL1 | NF1 |
| BCOR | NPM1 |
| BCORL1 | NRAS |
| CBL | PHF6 |
| CEBPA | PPM1D |
| CSF3R | PRPF8 |
| DDX41 | PTPN11 |
| DMNT3A | RAD21 |
| ETV6 | RUNX1 |
| ETNK1 | SAMD9 |
| EZH2 | SAMD9L |
| FLT3-ITD | SETBP1 |
| FLT3-TKD | SF3B1∗ |
| GATA2 | SRSF2 |
| GNB1 | STAG2 |
| IDH1 | TET2 |
| IDH2 | TP53∗ |
| JAK2 | U2AF1 |
| KIT | UBA1 |
| KRAS | WT1 |
| KMT2A-PTD | ZRSR2 |
FISH, fluorescence in situ hybridization.
Essential to classify MDS according to ICC and WHO5 criteria.