Karyotype analysis of bone marrow cells

The test is routinely applied for the evaluation of leukemia or other hematological disorders.

It includes analysis of at least 20 metaphases of bone marrow cells, following short-term culture. Chromosome banding, for example by RHG, at a resolution 300-350 bands (QAS 3) is typically required. 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, it will not detect submicroscopic microdeletions or microduplications, occurring in various types of leukemias and which may correlate with disease diagnosis or even prognosis.

As an alternative, we suggest that the test may be combined with MLPA for the detection of multiple chromosomal imbalances.