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Test Code MDM2F MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Reporting Name

MDM2 (12q15) Amp, FISH, Ts

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Identifying MDM2 amplification

 

Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central low-grade osteosarcoma

Method Name

Fluorescence In Situ Hybridization (FISH)


Ordering Guidance


This test does not include a pathology consultation. If a pathology consultation is requested, order PATHC / Pathology Consultation, and the appropriate fluorescence in situ hybridization test will be added 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


To resolve atypical fluorescence in situ hybridization results, confirmation testing by microarray is available; order CMAPT / Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded.



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 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: 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; 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 4 unstained? 

Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 4 consecutive unstained, positively charged, unbaked slides with 5 micron-thick sections of the tumor tissue.


Specimen Type

Tissue

Specimen Minimum Volume

Slides: 1 Hematoxylin and eosin-stained and 2 unstained

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.

Reference Values

An interpretive report will be provided.

Interpretation

A neoplastic clone is detected when the percent of cells with an abnormality exceeds the normal reference range for the MDM2 fluorescence in situ hybridization probe set.

 

Differential Diagnosis of Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor:

A positive result is consistent with amplification of the MDM2 gene locus (12q15) and, in the proper clinical and pathologic context, may support the diagnosis of well-differentiated liposarcoma/atypical lipomatous tumor (WDL/ALT). MDM2 amplification may be seen in other neoplasms and is not diagnostic in isolation. Clinical and pathologic correlation is required.

 

A negative result is consistent with absence of amplification of the MDM2 gene locus (12q15) but does not exclude the diagnosis of WDL/ALT. Clinical and pathologic correlation is required.

 

Differential Diagnosis of Osteosarcoma:

A positive result is consistent with amplification of the MDM2 gene locus (12q15) and, in the proper clinical and pathologic context, may support the diagnosis of parosteal osteosarcoma or low-grade central osteosarcoma. MDM2 amplification may be seen in other neoplasms and is not diagnostic in isolation. Clinical and pathologic correlation is required.

 

A negative result is consistent with absence of amplification of the MDM2 gene locus (12q15) but does not exclude the diagnosis of low-grade central osteosarcoma or parosteal osteosarcoma. Clinical and pathologic correlation is required.

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

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

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

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

88271-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)

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
MDM2F MDM2 (12q15) Amp, FISH, Ts 93808-4

 

Result ID Test Result Name Result LOINC Value
54681 Result Summary 50397-9
54684 Interpretation 69965-2
54683 Result 62356-1
CG929 Reason For Referral 42349-1
54917 Specimen 31208-2
54686 Source 31208-2
54687 Tissue ID 80398-1
55132 Method 85069-3
55133 Additional Information 48767-8
53396 Disclaimer 62364-5
54688 Released By 19139-5

Forms

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

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 fluorescence in situ hybridization probes). No analysis charges will be incurred if an insufficient number of representative cells are available for analysis.

 

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.