Also known as: Del(7q) FISH« Back to test list
Chromosomal abnormalities resulting in deletion at 7q or monosomy 7 can occur in both acute myeloid leukaemia (AML) and myelodysplastic syndrome (MDS). Genes in the deleted region include EPO, PLANH1 and MET. Deletions at 7q are also common in therapy-related AML/MDS. These abnormalities have prognostic implications.
Monosomy 7q is a poor prognostic indicator, often occurring in association with other cytogenetic abnormalities.
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 within the region of 7q commonly deleted in AML/MDS.
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 also recommend that the patient or another adult check the labelling of request forms and sample tubes.