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ATM deletion FISH

Test category:

Oncology - Leukaemia

Use of test

Purpose:

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

Utility:

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.

Methodology:

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

Ordering:

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.

Price:

Up to $255.

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

Rebate:

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