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Test Code MYCNF Neuroblastoma, 2p24 (MYCN) Amplification, FISH

Useful For

As a prognostic factor for patients with neuroblastoma


As an aid to treatment decisions in some patients with neuroblastoma

Disease States

  • Neuroblastoma

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 consultation. If a pathology consultation is requested, PATHC / Pathology Consultation should be ordered and the appropriate FISH test will be ordered and 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.


This assay detects MYCN amplification observed in paraffin-embedded tissue from patients being evaluated for a neuroblastoma. For testing blood or bone marrow, order MNBF / Neuroblastoma, 2p24 (MYCN) Amplification, FISH, Blood or Bone Marrow.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

MYCN, Neuroblastoma, FISH, Ts

Specimen Type


Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

A reason for referral and pathology report are required in order for testing to be performed. Send information with specimen. Acceptable pathology reports include working drafts, preliminary pathology or surgical pathology reports.

Specimen Required

Submit only 1 of the following specimens:


Specimen Type: Tissue

Preferred: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded (FFPE) tumor tissue block. Blocks prepared with alternative fixation methods may be acceptable; provide fixation method used.


Acceptable: Slides

Collection Instructions: Four consecutive, unstained, 5 micron-thick sections placed on positively charged slides, and 1 hematoxylin and eosin-stained slide.

Specimen 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)

Reject Due To

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

Clinical Information

Neuroblastoma is a solid tumor that occurs in early childhood and is usually found in the adrenal glands, but rarely is found in other areas of the body. Approximately 25% of all neuroblastomas have amplification of the MYCN oncogene, located on chromosome 2 at p24.1. Amplification of the MYCN oncogene correlates with an unfavorable prognosis and aggressive disease.


This test is not diagnostic for neuroblastoma. Other tumors including medulloblastoma, retinoblastoma, astrocytoma, and small cell lung cancer may have amplification of MYCN.

Reference Values

An interpretive report will be provided.


MYCN gene amplification is detected when the percent of cells with an abnormality exceeds the normal cutoff for the MYCN probe.


A positive result is consistent with MYCN gene amplification.


A negative result suggests no MYCN gene amplification. However, this result does not exclude the diagnosis of neuroblastoma.


This test is not approved by the U.S. Food and Drug Administration and is best used as an adjunct to existing clinical and pathologic information.


Fixatives other than formalin (eg, Prefer, Bouin's) may not be successful for FISH assays, however nonformalin-fixed samples will not be rejected. 


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.

Supportive Data

FISH analysis was performed on 52 formalin-fixed, paraffin-embedded specimens, including 22 neuroblastoma specimens from 17 patients, 20 normal adrenal glands, and 10 Wilm's tumors. Of the 22 neuroblastoma specimens, 2 exhibited MYCN amplification and 20 were within normal limits. Fourteen of the neuroblastoma specimens were previously tested by Southern blot analysis and the 2 cases exhibiting amplification by FISH were also shown to be amplified by Southern blot. The remaining 12 specimens were normal by both FISH and Southern blot analysis. All 20 normal adrenal glands and 9 of the Wilm's tumors were within normal limits. One of the Wilm's tumors exhibited duplication of MYCN. A different mechanism is responsible for duplication of the MYCN oncogene and does not lead to MYCN protein overexpression.

Method Description

The test is performed using a commercially available probe set for MYCN and the centromere region of chromosome 2 (D2Z1). 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 is 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 probe set is hybridized to the appropriate target areas and 2 technologists each analyze 30 interphase nuclei (60 cells) with the results expressed as a ratio of the total number of MYCN signals compared to the total number of D2Z1 control probe signals.(Unpublished Mayo method)

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CT.

Analytic Time

7 days

Specimen Retention Time

Slides and H&E used for analysis are retained by the lab indefinitely. Client provided paraffin blocks and extra unstained slides (if provided) will be returned after testing is complete.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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)

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)     

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
MYCNF MYCN, Neuroblastoma, FISH, Ts In Process


Result ID Test Result Name Result LOINC Value
52070 Result Summary 50397-9
52072 Interpretation 69965-2
52071 Result 62356-1
CG731 Reason for Referral 42349-1
CG732 Specimen 31208-2
52073 Source 31208-2
52074 Tissue ID 80398-1
52075 Method 49549-9
54574 Additional Information 48767-8
53841 Disclaimer 62364-5
52076 Released By 18771-6