Methodology
Molecular
Test Description

The NGS Comprehensive Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect 134 different translocations relevant in sarcomas in the genes ALK, CAMTA1, CCNB3, CIC, EPC1, EWSR1, FOXO1, FUS, GLI1, HMGA2, JAZF1, MEAF6, MKL2, NCOA2, NTRK3, PDGFB, PLAG1, ROS1, SS18, STAT6, TAF15, TCF12, TFE3, TFG, USP6, and YWHAE.

Clinical Significance

Sarcoma is a connective tissue cancer of mesenchymal origin which accounts for more than 20% of pediatric solid tumor malignancies but is rare in adults. The majority of sarcomas are classified as soft tissue sarcomas and approximately 10% are malignant bone tumors. Genomic rearrangements called translocations are present in approximately 20-30% of sarcomas and are associated with different subtypes of sarcomas. Identification of translocations can be useful for diagnosis, disease subclassification, and determining therapy. Compared to FISH, molecular detection of sarcoma translocations, as provided in this test, requires less tumor sample for a much broader and therefore more cost-effective screen. See the NGS Comprehensive Sarcoma Fusion test spotlight for more information.

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.