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ATM deletion FISH

Test category:

Oncology - Leukaemia

Use of test


Deletions of the ATM gene at 11q22 can be found in patients with chronic lymphocytic leukaemia (CLL). These deletions have prognostic implications.


Presence of an ATM deletion is associated with an intermediate prognosis in CLL.

Ethical considerations:

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 specific to the ATM gene. This interphase FISH test has a cut off at 5%. A low level of positive cells may be due to overlap of the two signals. Studies of normal controls indicate that this level is less than 5%.

Requesting the test


This test is usually requested by a haematologist or oncologist. In patients with CLL, it is usually requested as part of the CLL FISH panel.

Sample required:

0.5 mL bone marrow in transport media, or 5-10 mL blood in lithium heparin.

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.

Turnaround time:

5 business days.


Up to $255.

If more information is required, the requesting clinician can call our laboratory on (07) 3377 8573.


This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Click here for our billing policy.