Use of test
Changes in chromosome structure and number in myeloma cells can provide important prognostic and therapeutic information. A panel of FISH probes is used to determine risk status of the disease. High risk indicators are IGH rearrangement (with specific partner chromosomes), TP53 deletion and 1q trisomy. If an IGH rearrangement is detected, further testing is performed to look for the high risk partner genes MAF and FGFR3, and lower risk CCND1.
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 detect the abnormalities noted above.
Requesting the test
This test is usually requested by a haematologist or oncologist.
0.5 mL bone marrow in transport media.
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.