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USP6 FISH

Also known as: USP6 17p13FISH

Test category:

Oncology - Sarcoma

Use of test

Purpose:

The USP6 gene at 17p13 is rearranged in certain bone tumours. USP6 mutations have been identified in most cases of primary aneurysmal bone cysts (solid and cystic, including giant cell reparative granuloma of non-craniofacial bones), in nodular fasciitis, and in occasional cases of myositis ossificans. This test has diagnostic implications.

Utility:

The presence of a USP6 gene deletion or rearrangement supports a diagnosis of primary aneurysmal bone cyst, nodular fasciitis, or myositis ossificans.

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 to detect the USP6 rearrangement.

Requesting the test

Ordering:

This test is usually requested by an oncologist.

Request form:

Download the somatic mutation request form.

Sample required:

Formalin-fixed, paraffin embedded tissue (FFPE) - 15 sections of 4 uM thickness, dried overnight at 37°C onto charged/coated slides.

Special instructions:

Please stain the first section with H&E, and label each slide with patient and block identifiers. Label the unstained sections sequentially (slides 2-15). The request should be accompanied by the somatic mutation request form (above) and a copy of the original histopathology report.

Turnaround time:

5 business days.

Price:

Up to $410.

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.