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Test Code AMLMF / AMLMF-M Acute Myeloid Leukemia (AML), Specified FISH, Varies

Ordering Guidance

This test is intended for instances when limited acute myeloid leukemia (AML) fluorescence in situ hybridization (FISH) probes are needed based on specific abnormalities or on abnormalities identified in the diagnostic sample. The FISH probes to be analyzed must be specified on the request, otherwise test processing may be delayed in order to determine the intended analysis. If specific probes are not included with this test order, the test may be canceled and automatically reordered by the laboratory as either AMLAF / Acute Myeloid Leukemia (AML), FISH, Adult, Varies or AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies depending on the age of the patient.


If the entire AML FISH panel is preferred for an adult patient, order AMLAF / Acute Myeloid Leukemia (AML), FISH, Adult, Varies.

If the entire AML FISH panel is preferred for a pediatric patient, order AMLPF / Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies.


At diagnosis, conventional cytogenetic studies (CHRBM / Chromosome Analysis, Hematologic Disorders, Bone Marrow) and a complete AML FISH panel (either AMLAF or AMLPF) should be performed.


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.


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

1. A list of probes requested for analysis is required. Probes available for this test are listed in the Testing Algorithm section.

2. 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, however appropriate testing and/or interpretation may be compromised or delayed in some instances. 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 the recurrent chromosome abnormalities seen in patients with acute myeloid leukemia (AML) or other myeloid malignancies using a client specified probe set


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 1 probe set (2 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.


If the patient has known chromosome abnormalities identified in the diagnostic study, indicate the abnormality and which probes should be used.


When specified, any of the following probes will be performed:

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

Reflex: t(3;21)(q26.2;q22) MECOM/RUNX1

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

Reflex: 17q21 rearrangement, RARA break-apart

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

Reflex: t(4;11)(q21;q23), AFF1/MLL

Reflex: t(6;11)(q27;q23), MLLT4(AFDN)/MLL

Reflex: t(9;11)(p22;q23), MLLT3/MLL

Reflex: t(10;11)(p13;q23), MLLT10/MLL

Reflex: t(11;16)(q23;p13.3), MLL/CREBBP

Reflex: t(11;19)(q23;p13.1), MLL/ELL

Reflex: t(11;19)(q23;p13.3), MLL/MLLT1

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

Reflex: 16q22 rearrangement, CBFB break-apart

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98 break-apart

Reflex: t(7;11)(p15;p15.4), HOXA9/NUP98

12p13 rearrangement, ETV6 break-apart

Reflex: t(7;12)(q36;p13), MNX1/ETV6

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

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

Reflex: t(1;3)(p36;q21), PRDM16/RPN1

Reflex: t(3;21)(q26.2;q22), MECOM/RUNX1

t(8;16), [M4,M5], KAT6A/CREBBP

t(1;22), [M7], RBM15/MKL1

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/ D7S486

17p-, TP53/D17Z1

t(9;22), BCR/ABL1

Reflex: 9q34 rearrangement, ABL1 break-apart

t(3;5), [M2, 4, 6], MLF1/NPM1


The following algorithms are available:

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

AML, Specified FISH

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: inv(3), -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.


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.


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

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), t(7;11), t(7;12) 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
NorDx Test Catalog Note:

Analytic time for send out tests is the time it will take to perform testing once it has arrived at the performing reference lab. Please add 1 to 2 days from time of collection to allow for receipt at NorDx central lab and shipment of specimen, add another day if specimen is collected on the day before a weekend or holiday.

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

88271x2, 88275x1, 88291x1- FISH Probe, Analysis, Interpretation; 1 probe set

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLMF AML, Specified FISH In Process


Result ID Test Result Name Result LOINC Value
614204 Result Summary 50397-9
614205 Interpretation 69965-2
614206 Result Table 93356-4
614207 Result 62356-1
GC097 Reason for Referral 42349-1
GC098 Probes Requested 78040-3
GC099 Specimen 31208-2
614208 Source 31208-2
614209 Method 85069-3
614210 Additional Information 48767-8
614211 Disclaimer 62364-5
614212 Released By 18771-6

Reflex Tests

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


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