FISH, Synovial Sarcoma, SYT, 18q11.2 Rearrangement
Use
This fluorescence in situ hybridization (FISH) assay detects chromosome rearrangements involving the SS18 (SYT) gene on chromosome 18q11.2, which may aid in the diagnosis of synovial sarcoma. Histologic and immunohistochemical diagnosis can be challenging, and most synovial sarcomas harbor SS18 gene rearrangements resulting in fusions such as SS18/SSX1, SS18/SSX2, or rarely SS18/SSX4; this test supports clinical diagnosis in the appropriate context.
Special Instructions
Not provided.
Limitations
This test was developed by Quest Diagnostics and validated under CLIA but has not been cleared or approved by the U.S. Food and Drug Administration. It should be interpreted in the context of clinical and histopathologic findings. Rare fusions such as SS18L1/SSX1 resulting from t(X;20) cannot be detected by this FISH assay.
Methodology
Chromosomal / Cytogenetics
Biomarkers
No genes
GeneUnknown CNV
Copy Number Region
Result Turnaround Time
5 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
3 mL bone marrow
Minimum Volume
1 mL bone marrow
Collection Instructions
Bone marrow submitted in culture transport media; do not freeze; viability decreases during transit.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | See instructions |
| Refrigerated | See instructions |
| Frozen | See instructions |
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