Deletion of the long arm of chromosome 20 occurs in approximately 4.1% and 1.5% of myelodysplastic syndrome (MDS) cases and acute myeloid leukemia (AML) cases, respectively. It is also observed in ~10% of cases with chronic myeloproliferative disorder (MPD). The deletion is detected through FISH, using specific custom-labeled DNA probes, from at least 100 bone marrow cell nuclei.
This test may also be applied in combination with:
- Karyotyping of bone marrow cells combined with molecular detection of multiple chromosomal rearrangements
- Multicolor karyotype (M-FISH)