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Alternative Name
NGS Rhabdomyosarcoma Fusion Profile
Test Description

The NGS Rhabdomyosarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations related to rhabdomyosarcoma in the genes FOXO1, NCOA2, and TFE3.

Clinical Significance

The diagnosis and subclassification of rhabdomyosarcoma is very important for diagnostic, prognostic and treatment purposes. Several genetic abnormalities are associated with specific subtypes of rhabdomyosarcoma. In addition, alveolar soft part sarcoma is a soft tissue sarcoma that may be easily confused with certain types of rhabdomyosarcoma. This fusion profile is designed to aid in the diagnosis and subclassification of rhabdomyosarcoma and to identify cases of alveolar soft part sarcoma.

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)*
81401, 81479
Medicare MolDX CPT Code(s)*
Turnaround Time

21 days

Level of Service

*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.