Karyotype analysis of bone marrow cells, combined with MLPA for the detection of multiple chromosomal imbalances


The test is applied for the evaluation of leukemia or other hematological disorders. It includes analysis of at least 20 metaphases of bone marrow cells (RHG, 300 bands). In cases of patients undergoing treatment for an already diagnosed condition, 50-100 metaphases are analyzed.

Classic karyotype analysis, as applied in hematological malignancies, will reveal most characteristic numerical and structural chromosomal abnormalities.

However, classic karyotype analysis will not detect submicroscopic microdeletions or microduplications, occurring in various types of leukemias and which may correlate with disease diagnosis or even prognosis. Furthermore, FISH analysis for multiple chromosomal regions cannot be performed routinely, especially in cases involving newly diagnosed patients.

In order to compensate for this, we developed a novel MLPA-based reagent and implemented for the first time (see our relevant scientific publication) the parallel detection of characteristic microdeletions and microduplications of 13 chromosomal regions implicated in hematological malignancies coupled to the simultaneous detection of the JAK2 V617F mutation.

2p24 (MYCN και ALK) 5q (MIR και EBF1) 6q25-26
7p12.2 (IKZF1-IKAROS) 8q24.21 (MYC) 9p13.2 (PAX5)
9p21.3 (CDKN2A/2B) 10q23 (PTEN) 11q22.3 (ATM)
12p13.2 ( ETV6) 13q14 (RB1, MIR15A, DLEU2, DLEU1) 17p13.1 (TP53)
21q22.1 (RUNX1/AML1)

The test is suggested for routine screening of newly-diagnosed patients under investigation.

Detection is based on a custom designed MLPA technique, using multiple probes for the regions under investigation.

This test may also be applied in combination with:

  • FISH for specific translocations (additional information is provided)
  • Multicolor karyotype (M-FISH)
  • Hybrid gene detection – semi-quantitative analysis (additional information is provided)