Home
HelpTest Code SARCP Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor
Ordering Guidance
Multiple oncology (cancer) gene panels are available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.
Necessary Information
Pathology report (final or preliminary), at minimum containing the following information, must accompany specimen in order for testing to be performed:
1. Patient name
2. Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)
3. Tissue collection date
4. Source of the tissue
Specimen Required
This assay requires at least 10% tumor nuclei.
-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue 144 mm(2)
-Minimum amount of tumor area: tissue 36 mm(2)
-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.
-Tissue fixation: 10% neutral buffered formalin, not decalcified
-For specimen preparation guidance, see Tissue Requirement for Solid Tumor Next-Generation Sequencing. In this document, the sizes are given as 4 mm x 4 mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3 mm x 1 mm x 10 slides: approximate/equivalent to 36 mm(2).
Preferred:
Specimen Type: Formalin-fixed, paraffin-embedded (FFPE) tissue
Container/Tube: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.
Acceptable:
Specimen Type: FFPE Tissue
Slides: 1 Stained and 10 unstained
Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Specimen Type: Cytology slide (direct smears or ThinPrep)
Slide: 1 to 3 slides
Collection Instructions: Submit 1 to 3 slides stained and coverslipped with a preferred total of 5000 nucleated cells or a minimum of at least 3000 nucleated cells.
Note: Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.
Additional Information: Cytology slides will not be returned.
Useful For
Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial sarcoma)
Testing Algorithm
When this test is ordered, slide review will always be performed at an additional charge.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR)-based Next-Generation Sequencing (NGS)
Reporting Name
Sarcoma Targeted Gene Fusion PanelSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Frozen | |||
| Refrigerated | |||
Reject Due To
| Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded Bone marrow in EDTA |
Reject |
Clinical Information
Molecular analysis of biomarkers is increasingly being utilized in oncology practices to support and guide patient diagnosis, prognosis, and therapeutic management. Chromosomal translocations, interstitial deletions, and inversions that lead to gene fusions are common in various sarcomas, such as Ewing sarcoma and rhabdomyosarcoma. This next-generation sequencing assay is used to detect specific gene fusions to assist in the diagnosis of sarcomas. See Method Description for details regarding the targeted gene regions identified by this test.
Reference Values
An interpretive report will be provided.
Interpretation
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Cautions
This assay is not validated for the detection of point variations, deletions-insertions, copy number alterations, or gene expression.
This assay may detect gene fusions that are present at the RNA level, but not the DNA level, that result from cis splicing of adjacent genes or trans-splicing.(1)
This panel can detect in-frame and out-of-frame fusions. There may be lower sensitivity in detecting out-of-frame fusions such as exon-intron, intron-intron, or big insertions. This assay will only detect fusions involving at least one gene in the defined genes of interest list.
This assay will only detect fusions involving gene transcripts that have been defined in UCSC Genome Browser (March 2012 version) available from Illumina's iGenomes Project.(2)
Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause polymerase chain reaction failure.
A negative result does not rule out the presence of a gene fusion that may be present but below the limits of detection of this assay (tumor cells comprise <10% of the cell population; targeted fusion read coverage with <10 unique fusion molecules in a sample).
The limit of detection of this assay for specific gene fusions is dependent on several variables, including decreased sensitivity with decreased tumor percentage and decreased sensitivity with decreased level of expression of the gene fusion.
RNA is particularly labile and degrades quickly. Rapid preservation of the tumor sample after collection reduces the likelihood of degradation. Still, there can be biological factors, such as tumor necrosis, which interfere with obtaining a high-quality RNA specimen despite rapid preservation.
The presence or absence of a fusion may not be predictive of response to therapy or prognosis in all patients.
Fusions of uncertain significance may be identified.
Day(s) Performed
Varies
Report Available
10 to 14 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81456
88381
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| SARCP | Sarcoma Targeted Gene Fusion Panel | 95124-4 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 606430 | Result Summary | 50397-9 |
| 606431 | Result | 95123-6 |
| 606432 | Interpretation | 69047-9 |
| 606433 | Additional Information | 48767-8 |
| 606434 | Method | 85069-3 |
| 606435 | Disclaimer | 62364-5 |
| 606436 | Specimen | 31208-2 |
| 606437 | Source | 39111-0 |
| 606452 | Tissue ID | 80398-1 |
| 606438 | Released By | 18771-6 |
Additional Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Forms
If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.