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Test Code MNBF Neuroblastoma, 2p24 (MYCN) Amplification, FISH, Blood or Bone Marrow

Useful For

Aids in identifying metastatic disease in patients with a neuroblastoma that has been previously determined to be positive for the MYCN oncogene

Disease States

  • Neuroblastoma

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 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.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

MYCN (2p24), FISH, B/BM

Specimen Type


Specimen Required

Provide a reason for referral and a pathology report documenting the presence of the metastatic tumor present in the sample submitted. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.


If FISH analysis was performed on the primary tumor, please provide a copy of the report if available.


Advise Express Mail or equivalent if not on courier service.


Submit only 1 of the following specimens:


Specimen Type: Bone marrow

Container/Tube: Green top (sodium heparin)

Specimen Volume: 1-2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.


Specimen Type: Blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 7-10 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

Specimen Minimum Volume

Bone Marrow: 1 mL/Blood: 2 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)

Reject Due To

No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. Contact the laboratory with questions.

Clinical Information

Neuroblastoma is a small blue cell tumor that occurs typically 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. Amplification of the MYCN oncogene correlates with an unfavorable prognosis and aggressive disease.


Since metastasis to the bone marrow is common, detection of MYCN amplification in tumor cells present in the bone marrow is important. Prior to ordering this bone marrow test, if possible, testing on the primary tumor sample should be performed. If the primary tumor tests negative for MYCN amplification, bone marrow testing is not indicated. If the primary tumor demonstrates MYCN amplification, identification of MYCN amplification in the bone marrow will confirm the presence of metastatic disease. 


In some cases, the diagnostic biopsy specimen from the primary tumor is small and insufficient specimen may be available for ancillary tests such as FISH. In addition, if the primary sample is a bone biopsy, it cannot be used for FISH analysis. In such cases, if metastatic disease involving the bone marrow is identified, FISH testing on the bone marrow can be performed to evaluate for MYCN status in the tumor.

Reference Values

An interpretive report will be provided.


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


The presence of a positive clone supports a diagnosis of metastatic disease.


The absence of an abnormal clone does not rule out the presence of metastatic disease.


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


Bone marrow is the preferred specimen type for this FISH test. If bone marrow is not available, a blood specimen may be used if there are malignant cells in the blood specimen (as verified by hematopathology).

Supportive Data

MYCN testing was performed on both a paraffin-embedded tissue from the primary tumor and a metastatic bone marrow sample from 14 patients with neuroblastoma. The results from 12 patients were concordant: 11 patients with normal marrow and tissue samples (no MYCN amplification) and 1 patient with abnormal marrow and tissue samples (MYCN amplification). In 2 patients, the tumor demonstrated MYCN amplification, but the bone marrow did not. MYCN amplification was not detected in any of the 25 control samples that were used to generate a normal cutoff for this assay.

Clinical Reference

1. Van Noesel MM, Versteeg R: Pediatric neuroblastomas: genetic and epigenetic 'danse macabre'. Gene 2004;325:1-15

2. Ambros PF, Ambros IM, Brodeur GM, et al: International consensus for neuroblastoma molecular diagnostics: report from the International Neuroblastoma Risk Group (INRG) Biology Committee. Br J Cancer 2009;5:1471-1482

Method Description

The test is performed using commercially available probes for MYCN and D2Z1 (chromosome 2 centromere probe). The probe set is hybridized to the sample and 2 technologists each analyze 100 interphase nuclei (200 total) with the results expressed as the percent abnormal nuclei.(Unpublished Mayo method)

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m. to 5 p.m. CST.

Analytic Time

7 days

Specimen Retention Time

Three weeks.

Performing Laboratory

Mayo Medical 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
MNBF MYCN (2p24), FISH, B/BM In Process


Result ID Test Result Name Result LOINC Value
51824 Result Summary 50397-9
51826 Interpretation 69965-2
54534 Result In Process
CG662 Reason For Referral 42349-1
CG663 Specimen 31208-2
51827 Source 31208-2
51828 Method 49549-9
53432 Additional Information 48767-8
55271 Disclaimer 62364-5
51829 Released By 18771-6