Deletions of the long arm of chromosome 7 occur frequently in myelodysplastic syndrome (MDS), in acute myeloid leukemia (AML), in a percentage of 5-10% for de novo AML cases, in ~15% of adults affected with MDS and in ~40% of children and ~50% of adult patients treated for MDS/AML. The two most frequent deletions are the ones located at 7q22.1 and 7q31 regions.
The detection is based on a custom MLPA technique, using multiple probes in the region under investigation.
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)