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Test Code LAB8852 USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue

Additional Codes

USPF

Useful For

Identifying USP6 gene rearrangements

 

Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis when coordinated with an anatomic pathology consultation

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_PBCT Probe, +2 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for one probe set (2 individual FISH probes). Analysis charges will be incurred based on the number of cells analyzed per probe set. If no cells are available for analysis, no analysis charges will be incurred.

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

Method Name

Fluorescence In Situ Hybridization (FISH)

Specimen Type

Tissue


Ordering Guidance


This test does not include a pathology consultation. If a pathology consultation is requested, order PATHC / Pathology Consultation, and appropriate testing will be added at the discretion of the pathologist and performed at an additional charge.

 

Multiple oncology (cancer) gene panels are also available. For more information see Hematology, Oncology, and Hereditary Test Selection Guide.



Additional Testing Requirements


Confirmation testing by next-generation sequencing to resolve atypical or unbalanced fluorescence in situ hybridization results of this gene region is available, order SARCP / Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


1. A pathology report is required for testing to be performed. If not provided, appropriate testing and/or interpretation may be compromised or delayed. Acceptable pathology reports include working drafts, preliminary pathology, or surgical pathology reports.

2. The following information must be included in the report provided:

-Patient name

-Block number - must be on all blocks, slides, and paperwork

-Date of collection

-Tissue source

3. A reason for testing must be provided. If this information is not provided, an appropriate indication for testing may be entered by Mayo Clinic Laboratories.



Specimen Required


Submit only 1 of the following specimens:

 

Preferred

Specimen Type: Tissue block

Collection Instructions:

1. Submit a formalin-fixed, paraffin-embedded tumor tissue block. Blocks prepared with alternative fixation methods will be attempted but are less favorable for successful results by fluorescence in situ hybridization testing.

2. Provide fixation method used.

Additional Information:

1. Paraffin-embedded specimens can be from any anatomic location (skin, soft tissue, lymph node, etc).

2. Bone specimens that have been decalcified will be attempted for testing, but the success rate is approximately 50%.

 

Acceptable

Specimen Type: Tissue slides

Slides: 1 Hematoxylin and eosin stained and 3 unstained

Collection Instructions: Submit 3 consecutive unstained, positively charged, unbaked slides with 5 micron-thick sections of the tumor tissue and 1 slide stained with hematoxylin and eosin.


Specimen Minimum Volume

Slides: 1 Hematoxylin and eosin stained and 2 unstained

Specimen Stability Information

Specimen Type Temperature Time
Tissue Ambient (preferred)
  Refrigerated 
Medical University of South Carolina Note:

On-campus collections: Tube to 99 or deliver to University Extension Hospital Room EH318.
 
Off-campus collections: Specimen to be stored/transported at Room temp. 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Interpretation

USP6 will be clinically interpreted as positive, negative, or equivocal.

 

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal cutoff for the USP6 probe set.

 

A positive result is consistent with rearrangement of the USP6 gene and likely reflects USP6 fusion with a partner gene. A positive result may support a diagnosis of aneurysmal bone cyst (ABC) or nodular fasciitis (NF). The significance of this finding is dependent on the clinical and pathologic features.

 

A negative result suggests a USP6 gene rearrangement is not present. A negative result does not exclude the diagnosis of ABC or NF.

Method Description

The test is performed using a laboratory-developed USP6 dual-color, break-apart strategy fluorescence in situ hybridization probe set. Paraffin-embedded tissue samples are cut at 5 microns and mounted on positively charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin (H and E)-stained slide are performed by a pathologist. Using the H and E-stained slide as a reference, target areas are etched with a diamond-tipped engraving tool on the back of the unstained slide to be assayed. Each probe set is hybridized to the appropriate target areas, as indicated on the H and E, and 100 interphase nuclei are scored within the targeted areas. The results are expressed as the percent of abnormal nuclei.(Unpublished Mayo method)

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Specimen Retention Time

Slides used for analysis are retained by the laboratory in accordance with regulatory requirements. Client provided paraffin blocks and extra unstained slides (if provided) will be returned after testing is complete.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

88271x2, 88291-DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
USPF USP6 (17p13), FISH, Ts 101635-1

 

Result ID Test Result Name Result LOINC Value
54705 Result Summary 50397-9
54708 Interpretation 69965-2
54707 Result 62356-1
CG952 Reason for Referral 42349-1
54920 Specimen 31208-2
54710 Source 31208-2
54711 Tissue ID 80398-1
55134 Method 85069-3
55135 Additional Information 48767-8
53395 Disclaimer 62364-5
54712 Released By 18771-6

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.

Secondary ID

58104