Use of test
Changes in chromosome structure and number in marrow cells can provide important prognostic and therapeutic information in myelodysplastic syndrome (MDS). Deletions in the long arms of Chromosomes 5,7 and 20 are the most frequent abnormalities in MDS.
The laboratory report defines the changes in the patient's malignant cells and relates these changes to the current management recommendations.
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.
Fluorescent in situ hybridisation (FISH) analysis, using probes to identify deletions at 5q, 7q and 20q.
Requesting the test
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 blasts >10%).
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 recommend that the patient or another adult check the labelling of request forms and sample tubes.
2 business days.
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.