Cytogenetic and molecular studies - AML, CLL, lymphoma and myeloma - molecular risk criteria
Genetics defines the disease
Genetics now defines these diseases, not just their prognosis. Four questions it answers: what is it, how bad is it, which drug, and is it still there?
| Modality | Detects | Turnaround |
|---|---|---|
| Karyotype | Balanced translocations, complex karyotype, monosomies | 5-10 days; needs dividing cells |
| FISH | Named rearrangements/deletions in interphase | 1-3 days |
| PCR/RT-PCR | Fusion transcripts, MRD | Hours-days |
| NGS panel | Point mutations, indels | 1-3 weeks |
| Flow cytometry | Immunophenotype, MRD | Hours |
| Optical genome mapping | Structural variants, replacing karyotype in some labs | Days |
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