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Test Code LAB5295/11042/AMLAF Acute Myeloid Leukemia (AML), FISH, Adult, Varies

Ordering Guidance

This test is only performed on specimens from patients with acute myeloid leukemia (AML) who are older than 30 years of age.


This test is intended for instances when the entire AML fluorescence in situ hybridization (FISH) panel is needed for an adult patient.

-If this test is ordered on a patient 30 years of age or younger, this test will be canceled and automatically reordered by the laboratory as AMLPF / Acute Myeloid Leukemia, FISH, Pediatric, Varies.

- If this test is ordered and the laboratory is informed that the patient is on a Children's Oncology Group (COG) protocol, this test will be canceled and automatically reordered by the laboratory as COGMF / Acute Myeloid Leukemia (AML), Children's Oncology Group Enrollment Testing, FISH, Varies.


If limited AML FISH probes are preferred, order AMLMF / Acute Myeloid Leukemia, Specified FISH, Varies.


At follow-up, targeted AML FISH probes can be evaluated based on the specific abnormalities identified in the diagnostic study. Order AMLMF / Acute Myeloid Leukemia (AML), Specified FISH, Varies panel. and  request specific probes or abnormalities.


For testing paraffin embedded tissue samples from patients with myeloid sarcoma, order MSTF / Myeloid Sarcoma, FISH, Tissue.

Shipping Instructions

Advise Express Mail or equivalent if not on courier service.

Necessary Information

A reason for testing and a flow cytometry and/or a bone marrow pathology report (if available) should be submitted with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed. 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: Bone marrow


Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 2 to 3 mL

Collection Instructions:

1. It is preferable to send the first aspirate from the bone marrow collection.

2. Invert several times to mix bone marrow.



Specimen Type: Blood


Preferred: Yellow top (ACD)

Acceptable: Green top (heparin) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Invert several times to mix blood.

Secondary ID


Useful For

Detecting a neoplastic clone associated with recurrent chromosome abnormalities seen in adult patients with acute myeloid leukemia (AML) or other myeloid malignancies


An adjunct to conventional chromosome studies in patients with AML


Evaluating specimens in which standard cytogenetic analysis is unsuccessful

Testing Algorithm

This test includes a charge for the probe application, analysis, and professional interpretation of results for 4 probe sets (8 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.


The initial panel includes testing for the following abnormalities using the probes listed:

inv(16), [M4, Eos], MYH11/CBFB

t(8;21), [M2], RUNX1T1/RUNX1

t(15;17), [M3], PML/RARA

11q23 rearrangement, [M0-M7], MLL (KMT2A)


Based on the results from the initial panel, if testing was ordered concurrently with a chromosomal study (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow or CHRHB / Chromosome Analysis, Hematologic Disorders, Blood), testing will be held pending the results of the chromosome test. If the chromosome results are complete and informative, only appropriate secondary FISH probes will be selected and performed. If testing was NOT ordered concurrently with a chromosomal study each of the secondary probes will be performed. The secondary panel includes testing for the following abnormalities using the probes listed:

t(6;9), [M2,M4], DEK/NUP214

inv(3) or t(3;3), [M1,2,4,6,7], RPN1/MECOM

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/D7S486

17p-, TP53/D17Z1

t(9;22), ABL1/BCR


When an MLL (KMT2A) rearrangement is identified, reflex testing will be performed to identify the translocation partner. Probes include identification of t(4;11)(q21;q23) AFF1/MLL, t(6;11)(q27;q23) MLLT4(AFDN)/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(10;11)(p12;q23) MLLT10/MLL, t(11;16)(q23;p13.3) MLL/CREBBP, t(11;19)(q23;p13.1) MLL/ELL or t(11;19)(q23;p13.3) MLL/MLLT1.


In the absence of RPN1/MECOM and RUNX1/RUNX1T1 fusion, when an extra MECOM signal and an extra RUNX1 signal are identified, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.


In the absence of RPN1/MECOM fusion, when an extra RPN1 signal is identified, reflex testing using the PRDM16/RPN1 probe set will be considered to identify a potential t(1;3)(p36;q21).


In the absence of MYH11/CBFB fusion, when an extra CBFB signal is identified, reflex testing will be performed using the CBFB break-apart probe set to evaluate for the presence or absence of an CBFB rearrangement.


In the absence of PML/RARA fusion, when an extra or atypical RARA signal is identified, testing using the 5'RARA/3'RARA rearrangement probe set will be performed to identify a potential variant translocation involving RARA. example: t(17;var)(q21;?).


In the absence of BCR/ABL1 fusion, when an extra ABL1 signal is identified, reflex testing will be performed using the ABL1 break-apart probe set to evaluate for the presence or absence of an ABL1 rearrangement.


The following algorithms are available in Special Instructions:

Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up

Acute Leukemias of Ambiguous Lineage Testing Algorithm

Acute Myeloid Leukemia: Testing Algorithm

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name


Specimen Type


Specimen Minimum Volume

Blood: 2 mL
Bone Marrow: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)

Reject Due To

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

Clinical Information

Acute myeloid leukemia (AML) is one of the most common adult leukemias, with almost 10,000 new cases diagnosed per year. AML also comprises 15% of pediatric acute leukemia and accounts for the majority of infant (<1 year old) leukemia.


Several recurrent chromosomal abnormalities have been identified in AML with associated clinical significance. The most common chromosome abnormalities associated with AML include t(8;21), t(15;17), inv(16), and abnormalities of the MLL (KMT2A) gene at 11q23. The most common genes juxtaposed with MLL through translocation events in AML include MLLT3- t(9;11), MLLT4)- t(6;11), MLLT10- t(10;11), and ELL- t(11;19p13.1).


Other recurrent chromosome abnormalities associated with AML include inv(3) or t(3;3), t(6;9) and t(9;22). In addition, AML can also evolve from myelodysplasia (MDS). Thus, the common chromosome abnormalities associated with MDS can also be identified in AML, which include: -5/5q-, -7/7q-, and 17p-. Overall, the recurrent chromosome abnormalities identified in patients with AML are observed in approximately 60% of diagnostic AML cases.


Conventional chromosome analysis is the gold standard for identification of the common, recurrent chromosome abnormalities in AML. However, some of the subtle rearrangements can be missed by karyotype, including inv(16) and MLL rearrangements.


Fluorescence in situ hybridization (FISH) analysis of nonproliferating (interphase) cells can be used to detect the common diagnostic and prognostic chromosome abnormalities observed in patients with AML. When recurrent translocations or inversions are identified, FISH testing can also be used to track response to therapy.

Reference Values

An interpretive report will be provided.


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


The absence of an abnormal clone does not rule out the presence of a neoplastic disorder.


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


Fluorescence in situ hybridization (FISH) is not a substitute for conventional chromosome studies because the latter detects many chromosome abnormalities associated with other hematological disorders that would be missed by this FISH panel test.


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 a hematopathologist).

Clinical Reference

1. Swerdlow SH, Campo E, Harris NL, et al, eds: WHO Classification of Tumour of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 20172.

2. Dohner H, Estey E, Grimwade D, et al: Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424-447 doi:10.1182/blood-2016-08-733196

Method Description

This test is performed using commercially available  and laboratory-developed probes . Deletion or monosomy of chromosomes 5, 7, and 17 are detected using enumeration strategy probes. Rearrangements involving ABL1, MLL (KMT2A), CBFB, and RARA are detected using a dual-color break-apart (BAP) strategy probe. Dual-color, dual-fusion fluorescence in situ hybridization (D-FISH) strategy probe sets are used to detect inv(3), inv(16), t(8;21), t(15;17), t(6;9), t(8;16), t(3;21), t(1;3), t(1;22), t(9;22) and in reflex testing when rearrangements of the MLL gene are detected. For enumeration and BAP strategy probe sets, 100 interphase nuclei are scored; 200 interphase nuclei are scored when D-FISH probes are used. All results are expressed as the percent abnormal nuclei. (Unpublished Mayo method)

Day(s) Performed

Monday through Friday

Report Available

7 to 10 days

Specimen Retention Time

4 weeks

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

88271 x8, 88275 x4, 88291 x1- FISH Probe, Analysis, Interpretation; 4 probe sets

88271 x2, 88275 x1- FISH Probe, Analysis; each additional probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLAF Adult AML, FISH In Process


Result ID Test Result Name Result LOINC Value
609518 Result Summary 50397-9
609519 Interpretation 69965-2
609520 Result Table 93356-4
609521 Result 62356-1
GC059 Reason for Referral 42349-1
GC060 Specimen 31208-2
609522 Source 31208-2
609523 Method 85069-3
609524 Additional Information 48767-8
609525 Disclaimer 62364-5
609526 Released By 18771-6

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
AMLAB Probe, Each Additional (AMLAF) No, (Bill Only) No


If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.