Also known as: Chromosome Studies, Karyotype (oncology)« Back to test list
Chromosome analysis can detect abnormalities of chromosome structure or number in malignant cells. These abnormalities can have diagnostic and prognostic implications.
Chromosome analysis can be used to assist with diagnosis/subclassification, to follow clonal evolution, and to help determine prognosis.
This is an assay for non-heritable mutations. It does not raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.
Analysis of metaphase chromosomes by light microscopy. Chromosomes are counted, and examined for structural abnormalities.
This test is usually requested by a haematologist or oncologist.
0.5 mL bone marrow in transport media (or 10 mL blood in lithium heparin if clinically appropriate).
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.