Also known as: USP6 17p13FISH« Back to test list
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.
This test is usually requested by an oncologist.
Formalin fixed, paraffin-embedded tissue (FFPE) – 10 sections of 4 uM thickness, dried overnight at 37 degrees onto charged/coated slides.