USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Use
This test is useful for identifying USP6 gene rearrangements, which aid in the diagnosis of aneurysmal bone cysts (ABC) and nodular fasciitis (NF). USP6 rearrangements are detectable in approximately 70% of primary ABCs and 90% of NF cases but not in other conditions that may simulate them histologically. A positive result supports these diagnoses when coordinated with an anatomic pathology consultation.
Special Instructions
A pathology report is required for testing. The test includes charges for probe application and analysis. Proper specimen handling is crucial, and non-formalin fixatives may not be suitable. The test is not FDA approved but can be ordered by NY State clients.
Limitations
This FISH assay does not rule out other chromosome abnormalities and is best used adjunctively. Paraffin-embedded tissues that have been decalcified have a reduced success rate for FISH analysis. Insufficient tissue may lead to test cancellation, and non-formalin fixed specimens have lower success rates.
New York Approved
Methodology
Chromosomal / Cytogenetics (FISH)
Biomarkers
LOINC Codes
- 101635-1
- 50397-9
- 69965-2
- 62356-1
- 31208-2
- 80398-1
- 18771-6
- 85069-3
- 48767-8
- 42349-1
- 62364-5
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tumor tissue block or 3 consecutive unstained, positively charged, unbaked slides with tumor tissue sections. Provide fixation method used. Bone specimens that have been decalcified will be attempted but with a 50% success rate.
Causes for Rejection
Non-formalin fixed specimens may have reduced success.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |