Myelodysplastic Syndromes (MDS)
Confirmation of the clinical diagnosis of Myelodysplastic Syndromes (MDS) using genetic methods, as well as monitoring of minimal residual disease (MRD), is performed through the following tests:
A. Conventional Cytogenetic Analysis:
- Bone marrow karyotype
- Peripheral blood karyotype
B. Molecular Cytogenetic Analysis (FISH):
- Detection of monosomy or deletion of chromosome 7 (-7/7q-)
- Detection of monosomy or deletion of chromosome 5 (-5/5q-)
- Detection of inversion, translocation, or deletion of chromosome 16 [inv(16)(p13q22), t(16;16)(p13;q22), del(16)(q22)], MYH11/CBFB hybrid gene
- Detection of trisomy 8
- Detection of trisomy 21
- Detection of deletion of chromosome 20, del(20q12)
- Detection of Y monosomy
C. Molecular Genetic Analysis:
- Detection and quantification of the MYH11/CBFB hybrid gene, inv(16)(p13q22), t(16;16)(p13;q22)
