Test Catalog

Test Id : AMLAF

Acute Myeloid Leukemia (AML), FISH, Adult, Varies

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

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

Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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

Fluorescence In Situ Hybridization (FISH)

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

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Adult AML, FISH

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

-5 (monosomy 5)

-7 (monosomy 7)

17p- (17p deletion) or TP53

5q- (5q deletion)

7q- (7q deletion)

Acute Promyelocytic Leukemia (APL) or RARA

AML-M0

AML-M1

AML-M2

AML-M3

AML-M4

AML-M4eo

AML-M5

AML-M7

inv(16) - inv(16) - MYH11/CBFB

inv(3) - inv(3) - RPN1/MECOM or RPN1/EVI

MLL or KMT2A (11q23) rearrangement

t(1;3)(p36.3;q21.3) - PRDM16/RPN1

t(10;11)(p13;q23) - MLLT10/MLL or AF10/MLL

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(4;11)(q21;q23) - AFF1/MLL or AF4/MLL

t(6;11)(q27;q23) - MLLT4/MLL or AF6/MLL

t(6;9)(p23;q34) - DEK/NUP214 or DEK/CAN

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

Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Specimen Type
Describes the specimen type validated for testing

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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Submit only 1 of the following specimens:

 

Preferred

Specimen Type: Bone marrow

Container/Tube:

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.

 

Acceptable

Specimen Type: Blood

Container/Tube:

Preferred: Yellow top (ACD)

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

Specimen Volume: 6 mL

Collection Instructions: Invert several times to mix blood.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood: 2 mL

Bone Marrow: 1 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

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

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
Refrigerated

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

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
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

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
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

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.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

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).

Supportive Data

Each probe was independently tested and verified on unstimulated peripheral blood and bone marrow specimens. Normal cutoffs were calculated based on the results of 25 normal specimens. Each probe set was evaluated to confirm the probe set detected the abnormality it was designed to detect.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

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)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

7 to 10 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

4 weeks

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

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)

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports