AMLF - Overview: Acute Myeloid Leukemia (AML), FISH

Test Catalog

Test Name

Test ID: AMLF    
Acute Myeloid Leukemia (AML), FISH

Useful For Suggests clinical disorders or settings where the test may be helpful

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with acute myeloid leukemia or other myeloid malignancies


Evaluating specimens in which standard cytogenetic analysis is unsuccessful


Identifying and tracking known chromosome abnormalities in patients with myeloid malignancies and tracking response to therapy

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
_PBCTProbe, +2No, (Bill Only)No
_PADDProbe, +1No, (Bill Only)No
_PB02Probe, +2No, (Bill Only)No
_PB03Probe, +3No, (Bill Only)No
_IL25Interphases, <25No, (Bill Only)No
_I099Interphases, 25-99No, (Bill Only)No
_I300Interphases, >=100 No, (Bill Only)No

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

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.


See Acute Promyelocytic Leukemia: Guideline to Diagnosis and Follow-up in Special Instructions.


Indicate if the entire panel is to be performed. If the patient is being treated for known abnormalities, indicate which probes should be used.


Indicate the subtype, as well as, which abnormalities need to be investigated from the following profile:

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

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

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

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

+8, [M0-M7], D8Z2/MYC

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], MYST3/CREBBP

t(3;5)(q25.32;q35.1), MLF1/NPM1

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

-5/5q-, D5S630/EGR1

-7/7q-, D7S486/D7Z1

13q-, D13S319/LAMP1

17p-, TP53/D17Z1

20q-, D20S108/20qter

t(9;22), BCR/ABL1


*The RBM15/MKL1 probe set will only be used to test patients with a suspected or confirmed diagnosis of M7 or to confirm a t(1;22) identified by chromosome analysis.


-When a 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/MLL, t(9;11)(p22;q23) MLLT3/MLL, t(10;11)(p13;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.

-When 3 copies of MECOM are observed with no fusion with RPN1, reflex testing using the MECOM/RUNX1 probe set will be performed to identify a potential t(3;21)(q26.2;q22) rearrangement.

-When 3 copies of RPN1 are observed with no fusion with MECOM, reflex testing using the PRDM16/RPN1 probe set will be performed to identify a potential t(1;3)(p36;q21).


This assay detects chromosome abnormalities observed in the blood and bone marrow of patients with acute myeloid leukemia. For testing paraffin-embedded tissue samples from patients with myeloid sarcoma, see MSTF / Myeloid Sarcoma, FISH, Tissue.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Fluorescence In Situ Hybridization (FISH)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name


Aliases Lists additional common names for a test, as an aid in searching

+8 (trisomy 8)
-5 (monosomy 5)
-7 (monosomy 7)
13q- (13q deletion)
17p- (17p deletion) or TP53
20q- (20q deletion)
5q- (5q deletion)
7q- (7q deletion)
Acute Promyelocytic Leukemia (APL)
inv(16) - inv(16) - MYH11/CBFB
inv(3) - inv(3) - RPN1/MECOM or RPN1/EVI
isodicentric 20q - idic(20)
t(1;22)(p13.3;q13.1q13.2) - RBM15/MKL1
t(1;3)(p36.3;q21.3) - PRDM16/RPN1
t(11;16)(q23;p13.3) - MLL/CREBBP
t(11;19)(q23;p13.1) - MLL/ELL
t(11;19)(q23;p13.3) - MLL/MLLT1 or MLL/ENL
t(15;17)(q24.1;q21) - PML/RARA
t(16;16)(p13.1;q22) - MYH11/CBFB
t(3;21)(q26.2;q22) - MECOM/RUNX1or EVI1/AML1
t(3;3)(q21.3;q26.2) - RPN1/MECOM or RPN1/EVI1
t(3;5)(q25.32;q35.1) - MLF1/NPM1
t(6;11)(q27;q23) - MLLT4/MLL or AF6/MLL
t(6;9)(p23;q34) - DEK/NUP214 or DEK/CAN
t(8;16)(p11.2;p13.3) - KAT6A/CREBBP or MYST3/CREBBP
t(8;21)(q22;q22) - RUNX1T1/RUNX1 or ETO/AML1
t(9;11)(p22;q23) - MLLT3/MLL or AF9/MLL
t(9;22)(q34;q11.2) - BCR/ABL1
t(4;11)(q21;q23) - AFF1/MLL or AF4/MLL
MLL or KMT2A (11q23) rearrangement
t(10;11)(p13;q23) - MLLT10/MLL or AF10/MLL