Methodology
Molecular
Test Description

The NGS Pediatric Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations related to pediatric sarcomas in the genes ALK, EWSR1, FUS, FLI1, NTRK3, and USP6.

Clinical Significance

The precise diagnosis of pediatric soft tissue tumors is very important for prognosis and treatment purposes.  Unfortunately, many of these neoplasms are difficult to distinguish from one another, even after careful morphologic and immunohistochemical study. This fusion profile has been designed to aid in the diagnosis of some of the more common (and difficult to recognize) soft tissue proliferations which occur with relatively high frequency in the pediatric age group.  The fusion profile will detect the common translocations found in angiomatoid fibrous histiocytoma, congenital/infantile fibrosarcoma, inflammatory myofibroblastic tumor, nodular fasciitis, and pericytoma.

Specimen Requirements

FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Storage and Transportation

Use cold pack for transporting block during summer to prevent block from melting.  Slides can be packed at room temperature.

CPT Code(s)*
81479x1
Turnaround Time

21 days

Level of Service
Global

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.