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Test ID AMLPF Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies

Ordering Guidance

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


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

-If this test is ordered on a patient older than 30 years, this test will be canceled and automatically reordered by the laboratory as AMLAF / Acute Myeloid Leukemia, FISH, Adult, 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 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

1. 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.


2. If the patient has received an opposite sex bone marrow transplant prior to specimen collection for this protocol, note this information on the request.

Already noted above as optional. If required will need to reword above statement.

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.

Useful For

Detecting a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in pediatric/young adult patients with acute myeloid leukemia (AML)


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 13 probe sets (26 individual fluorescence in situ hybridization [FISH] probes). Additional charges will be incurred for all reflex or additional probe sets performed.



The diagnostic pediatric/young adult FISH panel includes testing for the following abnormalities using the FISH 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)

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

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

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

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

-5/5q-, D5S630/EGR1

-7/7q-, D7Z1/ D7S486

12p13 rearrangement, ETV6

inv(16), GLIS2/CBFA2T3

11p15.4 rearrangement, NUP98


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 fusion, when an extra MECOM signal is 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 a break-apart RARA probe set will be performed to identify a potential variant translocation involving RARA; example: t(17;var)( q21;?).


When an ETV6 rearrangement is identified, reflex testing using the MNX1/ETV6 probe set will be performed to identify a potential t(7;12)(q36;p13) rearrangement.


When a NUP98 rearrangement is identified, reflex testing using the HOXA9/NUP98 probe set will be performed to identify a potential t(7;11)(p15;p15.4) 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

Pediatric AML, 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)

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. 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 MLTT4(MLLT4)- t(6;11), MLLT3- t(9;11), MLLT10- t(10;11), and ELL- t(11;19p13.1).


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-. 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 neoplastic disorder.

Clinical Reference

1. Grimwade D, Hills RK, Moorman AV, et al: Refinement of cytogenetics classification in acute myeloid leukemia: determination of prognostic significance or rare recurring chromosomal abnormalities among 5879 younger adult patients treated in the United Kingdom Research Council trials. Blood. 2010 Jul;116(3):354-365

2. Swerdlow SH, Campo E, Harris NL, et al. eds: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. IARC Press; 2017

3. 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

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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

88271x26, 88275x13, 88291 x1-FISH Probe, Analysis, Interpretation; 13 probe sets

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
AMLPF Pediatric AML, FISH In Process


Result ID Test Result Name Result LOINC Value
609528 Result Summary 50397-9
609529 Interpretation 69965-2
609530 Result Table 93356-4
609531 Result 62356-1
GC062 Reason for Referral 42349-1
GC063 Specimen 31208-2
609532 Source 31208-2
609533 Method 85069-3
609534 Additional Information 48767-8
609535 Disclaimer 62364-5
609536 Released By 18771-6

Reflex Tests

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


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