Table 2 Conventional diagnostics included karyotyping, RT-PCR Panel diagnostics, FISH, and CNV microarray, the latter two as indicated by the treating physician.

From: Optical Genome Mapping in MDS and AML as tool for structural variant profiling—comment and data update on Yang et al.: “High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance”

Diagnosis (n)

Findings through conventional diagnostics (%/cases)

Findings through OGM (%/cases)

Redefinition of karyotype through OGM (%/cases)

AML

61%

87%

70%

AML-MRC

83%

92%

58%

MDS

86%

86%

57%

Total

71%

88%

64%

  1. OGM not only detected relevant structural variants in more cases than conventional diagnostics, but also detected additional variants in 27 cases, leading to clarification and redefinition of the karyotype.
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