Use of test
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.
The presence of a USP6 gene deletion or rearrangement supports a diagnosis of primary aneurysmal bone cyst, nodular fasciitis, or myositis ossificans.
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 USP6 rearrangement.
Requesting the test
This test is usually requested by an oncologist.
Download the somatic mutation request form.
Formalin-fixed, paraffin embedded tissue (FFPE) - 15 sections of 4 uM thickness, dried overnight at 37°C onto charged/coated slides.
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.
5 business days.
Up to $410.
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.