Test Catalog

Test Id : JAMLM

Not Orderable

Acute Myeloid Leukemia (AML), FISH, Bone Marrow

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Overview

Test Catalog

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

Diagnosing and classifying acute myeloid leukemia using bone marrow specimens

 

Providing guidance for clinical management of patients

 

Confirming a gene fusion detected by next-generation sequencing

 

Tracking response to therapy

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
JAMMP Probe, Each Additional (JAMLM) No, (Bill Only) No

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

A charge and CPT code is applied for each probe set hybridized, analyzed and reported.

 

The following fluorescence in situ hybridization (FISH) probes are orderable individually or as a set:

Dual color dual fusion probes for PML::RARA fusion

Dual color dual fusion probes for RUNX1T1::RUNX1 fusion

Dual color break-apart probes for CBFB::MYH11 fusion

Dual color break-apart probes for KMT2A rearrangement

Dual color dual fusion probes for DEK::NUP214 fusion

Tri- color dual fusion probes for BCR::ABL1 fusion

Dual color break-apart probes for MECOM rearrangement

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.

No

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

AML FISH, Bone Marrow

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

CEBPA

CBFB/MYH11

CBF::MYH11

MECOM

KMT2A

NPM1

NUP98

PML/RARA

DEK/NUP214

DEK::NUP214

RUNX1T1/RUNX1

RUNX1T1::RUNX1

BCR/ABL

BCR::ABL

PML::RARA

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

A charge and CPT code is applied for each probe set hybridized, analyzed and reported.

 

The following fluorescence in situ hybridization (FISH) probes are orderable individually or as a set:

Dual color dual fusion probes for PML::RARA fusion

Dual color dual fusion probes for RUNX1T1::RUNX1 fusion

Dual color break-apart probes for CBFB::MYH11 fusion

Dual color break-apart probes for KMT2A rearrangement

Dual color dual fusion probes for DEK::NUP214 fusion

Tri- color dual fusion probes for BCR::ABL1 fusion

Dual color break-apart probes for MECOM rearrangement

Specimen Type
Describes the specimen type validated for testing

Bone Marrow

Shipping Instructions

Specimen must arrive within 7 days of collection.

Necessary Information

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

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

Container/Tube: Green top (sodium heparin) or yellow top (ACD solution B)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

1 mL

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

Gross hemolysis Reject
Moderately to severely clotted Reject

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
Bone Marrow Ambient (preferred) 7 days
Refrigerated 7 days

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

Diagnosing and classifying acute myeloid leukemia using bone marrow specimens

 

Providing guidance for clinical management of patients

 

Confirming a gene fusion detected by next-generation sequencing

 

Tracking response to therapy

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

A charge and CPT code is applied for each probe set hybridized, analyzed and reported.

 

The following fluorescence in situ hybridization (FISH) probes are orderable individually or as a set:

Dual color dual fusion probes for PML::RARA fusion

Dual color dual fusion probes for RUNX1T1::RUNX1 fusion

Dual color break-apart probes for CBFB::MYH11 fusion

Dual color break-apart probes for KMT2A rearrangement

Dual color dual fusion probes for DEK::NUP214 fusion

Tri- color dual fusion probes for BCR::ABL1 fusion

Dual color break-apart probes for MECOM rearrangement

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

Acute myeloid leukemia (AML) has been defined by genetic abnormalities and differentiation in the 5th edition of World Health Organization classification of hematolymphoid tumors.(1)

 

The subtypes of AML defined by genetic abnormalities include:

Acute promyelocytic leukemia with PML::RARA fusion

AML with RUNX1::RUNXT1 fusion

AML with CBFB::MYH11 fusion

AML with DEK::NUP214 fusion

AML with RBM15::MRTFA fusion

AML with BCR::ABL1 fusion

AML with KMT2A rearrangement

AML with MECOM rearrangement

AML with NUP98 rearrangement

AML with NPM1 mutation

AML with CEBPA mutation

AML myelodysplasia-related

AML with other defined genetic alterations

 

Fluorescence in situ hybridization (FISH) testing detects specific gene fusions associated with AML.

 

Fluorescence in situ hybridization testing will not detect gene variants associated with AML.

 

RBM15::MRTFA fusion and NUP98 rearrangement will not be detected in this FISH test. These two abnormalities are rare and can be detected by next-generation sequencing. FISH testing for these two abnormalities may be added to this test at later date.

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

Detection of a specific fusion or a rearrangement confirms a clinical diagnosis of acute myeloid leukemia (AML) and defines an AML classification. Absence of a specific gene fusion or rearrangement will not rule out presence of AML.

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

Fluorescence in situ hybridization (FISH) results should be correlated with clinical and pathologic information for diagnosis and treatment.

 

Fluorescence in situ hybridization testing is not a substitute for conventional chromosome studies because the latter detects many other chromosome abnormalities associated with acute myeloid leukemia and other hematological disorders.

 

Bone marrow is the preferred specimen type. 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); see JAMLB / Acute Myeloid Leukemia (AML), FISH, Blood.

Supportive Data

Each probe was independently tested and verified on unstimulated peripheral blood specimens. Normal cutoffs were calculated based on the results of 22 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. Khoury JD, Solary E, Abla O et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36(7):1703-1719. doi:10.1038/s41375-022-01613-1

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

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

Fluorescence in situ hybridization is performed using commercially available probes, including the dual/tri-color dual fusion DNA probes for PML::RARA, RUNX1T1::RUNX1, DEK::NUP214, and BCR::ABL1 fusion and break-apart probes for CBFB, KTM2A, and MECOM rearrangement. Two-hundred interphase nuclei are analyzed for each probe set by 2 laboratory technologists, 100 per technologist. All results are interpreted as positive or negative based on the cut-off established by the validation in this lab and reported using an International System for Human Cytogenetic Nomenclature.(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.

2 to 8 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

Mayo Clinic Jacksonville Clinical Lab
CLIA Number: 10D0269502

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 account representative. 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. It 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.

88377 (if 1 probe set)

88377 x 2 (if 2 probe sets)

88377 x 3 (if 3 probe sets)

88377 x 4 (if 4 probe sets)

88377 x 5 (if 5 probe sets)

88377 x 6 (if 6 probe sets)

88377 x 7 (if 7 probe sets)

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
JAMLM AML FISH, Bone Marrow 102103-9
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
620195 Result Summary 50397-9
620196 Interpretation 59465-5
620197 Result 62356-1
620198 Reason For Referral 42349-1
620341 Probes Requested 62370-2
620199 Specimen 31208-2
620200 Source 31208-2
620201 Method 85069-3
620202 Additional Information 48767-8
620203 Disclaimer 62364-5
620204 Released By 18771-6

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