Test Code TFEBF Renal Cell Carcinoma, 6p21.1 (TFEB) Rearrangement, FISH, Tissue
Shipping Instructions
Advise Express Mail or equivalent if not on courier service.
Necessary Information
1. A pathology report is required in order for testing to be performed. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.
2. 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:
Specimen Type: Tissue
Container/Tube: Formalin-fixed, paraffin-embedded tumor tissue block
Specimen Type: Slides
Specimen Volume: 4 Consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide
Useful For
Identifying TFEB gene rearrangements in patients with renal cell carcinoma (RCC)
Reflex Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
_I099 | Interphases, 25-99 | No, (Bill Only) | No |
_I300 | Interphases, >=100 | No, (Bill Only) | No |
_IL25 | Interphases, <25 | 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 |
_PBCT | Probe, +2 | No, (Bill Only) | No |
Testing Algorithm
This test does not include a pathology consult. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered, and the appropriate fluorescence in situ hybridization (FISH) test will be performed at an additional charge.
This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.
Additional charges will be incurred for all reflex probes performed. 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)
Reporting Name
TFEB, 6p21.1, FISHSpecimen Type
TissueSpecimen Minimum Volume
Two consecutive, unstained, 5 micron-thick sections placed on positively charged slides and 1 hematoxylin and eosin-stained slide.
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Tissue | Ambient (preferred) | ||
Refrigerated |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Clinical Information
The TFEB gene may be altered in some patients with renal cell carcinoma (RCC). Identification of rearrangement of the TFEB gene region by FISH analysis can aid in the diagnosis of RCC.
Reference Values
An interpretive report will be provided.
Interpretation
A positive result with the TFEB probe is detected when the percent of cells with an abnormality exceeds the normal cutoff for the probe set. A positive result of TFEB suggests promotor substitution caused by structural alterations of the TFEB gene region at 6p21.1. A negative result suggests no structural alterations of the locus.
Cautions
This test is not approved by the FDA and should be used as an adjunct to existing clinical and pathologic information.
Fixatives other than formalin (eg, Prefer, Bouin) may not be successful for FISH assays. Although FISH testing will not be rejected due to nonformalin fixation, results may be compromised.
Paraffin-embedded tissues that have been decalcified are generally unsuccessful for FISH analysis. The pathologist reviewing the hematoxylin and eosin-stained slide may find it necessary to cancel testing.
Method Description
This test uses a laboratory developed TFEB (6p21.1) dual-color break-apart probe (BAP) strategy. Formalin-fixed paraffin-embedded tissues 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 etcher on the back of the unstained slide to be assayed. The probes are hybridized to the appropriate target areas and 2 technologists analyze each probe set. Using the TFEB probe set, each technologist analyzes 50 interphase nuclei (100 total) and the results are expressed as the percent of abnormal nuclei.(Unpublished Mayo method)
Day(s) Performed
Monday through Friday
Report Available
7 to 10 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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
88271 x 2, 88291-DNA probe, each (first probe set), Interpretation and report
88271 x 2-DNA probe, each; each additional probe set (if appropriate)
88271 x 1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)
88271 x 2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)
88271 x 3-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)
88275-Interphase in situ hybridization, 100 to 300 cells, each probe set (if appropriate)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
TFEBF | TFEB, 6p21.1, FISH | 95780-3 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
92350 | Result Summary | 50397-9 |
92351 | Interpretation | 69965-2 |
92352 | Result | 62356-1 |
GC002 | Reason for Referral | 42349-1 |
92353 | Specimen | 31208-2 |
92354 | Source | 31208-2 |
92355 | Tissue ID | 80398-1 |
92356 | Method | 85069-3 |
92357 | Additional Information | 48767-8 |
92358 | Disclaimer | 62364-5 |
92359 | Released By | 18771-6 |