Test Catalog

Test Id : NGAML

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MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies

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Overview

Test Catalog

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

Evaluation of acute myeloid leukemia (AML) using a focused 11-gene panel at the time of diagnosis or possibly at relapsed/refractory disease to help guide classification and possible therapeutic approaches

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing to evaluate for the following 11 genes: CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, and TP53.

Highlights

Next-generation sequencing detection of somatic gene mutations, including type, pattern, and distribution, has diagnostic, prognostic, and potential therapeutic implications for patients with hematologic cancers, such as acute myeloid leukemia (AML).

 

This test enables more accurate classification and prognostic assessment of AML.

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

For a list of genes and exons targeted by this test see Targeted Genes Interrogated by Acute Myeloid Leukemia, 11-Gene Panel

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

Next-Generation Sequencing (NGS)

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

AML, 11 Gene, NGS, V

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

FLT3

NPM1

CEPBA

IDH1

IDH2

KRAS

NRAS

TP53

Next generation sequencing of leukemia

Next Gen Sequencing Test

NGS for acute myeloid leukemia evaluation

NGS hematologic malignancies

Somatic mutation detection by next generation sequencing (NGS), hematologic

DNMT3A

KIT

RUNX1

NGAML

Enasidenib therapy

Gilteritinib therapy

Ivosidenib therapy

Mayo Complete

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

For a list of genes and exons targeted by this test see Targeted Genes Interrogated by Acute Myeloid Leukemia, 11-Gene Panel

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

This gene panel is a subset of the NGSHM / Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing test and focuses more specifically on the gene mutations that are most prevalent and clinically significant in acute myeloid leukemias (AML). If a wider gene mutation analysis is desired or the indication for testing is for a myeloid malignancy other than AML, consider NGSHM.

Shipping Instructions

Bone marrow and peripheral blood specimens must arrive within 14 days of collection.

Necessary Information

The following information is required:

1. Clinical diagnosis

2. Pertinent clinical history, including disease phase (diagnostic, remission, relapse/refractory) and therapy status (especially if patient has received a hematopoietic stem cell transplant).

3. Clinical or morphologic suspicion

4. Date of collection

5. Specimen source

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
MP038 Specimen Type

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 aspirate

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Green top (sodium heparin)

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 Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Peripheral blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Green top (sodium heparin)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability: Ambient (preferred)/Refrigerate

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5 to 2 mL tube with indication of volume and concentration of the DNA

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA and source of specimen.

Specimen Stability: Frozen (preferred)/Refrigerated/Ambient

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

Forms

1. Hematopathology Patient Information (T676)

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

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.

Blood, Bone marrow: 1 mL

Extracted DNA: 100 mcL at 20 ng/mcL concentration

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

Gross hemolysis Reject
Gross lipemia OK
Bone marrow biopsies
Slides
Paraffin shavings or frozen tissues
Paraffin-embedded tissues
Paraffin-embedded bone marrow aspirates
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
Varies Varies 14 days

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

Evaluation of acute myeloid leukemia (AML) using a focused 11-gene panel at the time of diagnosis or possibly at relapsed/refractory disease to help guide classification and possible therapeutic approaches

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing to evaluate for the following 11 genes: CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, and TP53.

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

For a list of genes and exons targeted by this test see Targeted Genes Interrogated by Acute Myeloid Leukemia, 11-Gene Panel

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

Next-generation sequencing is a comprehensive molecular diagnostic methodology that can interrogate multiple regions of genomic tumor DNA in a single assay. Many hematologic neoplasms, including acute myeloid leukemia (AML), are characterized by morphologic or phenotypic similarities but can have characteristic somatic mutations in several genes that enable more specific categorization. In addition, many cases of AML lack a clonal cytogenetic finding at diagnosis (normal karyotype) and can be better classified according to gene mutation profile. The presence and pattern of gene mutations in AML can provide critical prognostic information and may help in guiding therapeutic management decisions by physicians, particularly if targeted therapies are available.

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

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

This test is a targeted next-generation sequencing (NGS) assay that encompasses 11 genes with variable full exon, partial region (including select intronic or noncoding regions), or hot spot coverage (depending on specific locus). Therefore, this test will not detect other genetic abnormalities in genes or regions outside the specified target areas. The test detects single base substitutions (ie, point mutations), as well as small insertion or deletion type events, but it does not detect gene rearrangements (ie, translocations), gene fusions, copy number alterations, or large scale (segmental chromosome region) deletions and complex changes.

 

This assay does not distinguish between somatic and germline alterations in analyzed gene regions, particularly with variant allele frequencies near 50% or 100%. If nucleotide alterations in genes associated with germline variant syndromes are present and there is a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. A low incidence of gene mutations associated with myeloid neoplasms can be detected in nonmalignant hematopoietic cells in individuals with advancing age (clonal hematopoiesis of indeterminate potential), and these may not be clearly distinguishable from tumor-associated mutations. Some apparent mutations classified as variants of uncertain significance may represent rare or low-frequency polymorphisms.

 

Prior treatment for hematologic malignancy could affect the results obtained in this assay. In particular, a prior allogeneic hematopoietic stem cell transplant may cause difficulties in resolving somatic or polymorphic alterations or assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.

 

The finding of a genetic alteration does not necessarily indicate the presence of a myeloid neoplasm. Correlation with clinical, histopathologic, and additional laboratory findings is required for final interpretation of NGS results and is the responsibility of the managing physician.

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

1. National Comprehensive Cancer Network (NCCN): NCCN Guidelines: Acute Myeloid Leukemia.  NCCN; Version 2.2022 Available at www.nccn.org/guidelines/guidelines-detail?category=1&id=1411

2. DiNardo CD, Stein EM, de Botton S, et al: Durable remissions with ivosidenib in IDH1-mutated relapsed or refractory AML. N Engl J Med. 2018 Jun 21;378(25):2386-2398. doi: 10.1056/NEJMoa1716984

3. Stein EM, DiNardo CD, Fathi AT, et al: Molecular remission and response patterns in patients with mutant-IDH2 acute myeloid leukemia treated with enasidenib. Blood. 2019 Feb 14;133(7):676-687. doi: 10.1182/blood-2018-08-869008

4. 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 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196

5. Smith CC: The growing landscape of FLT3 inhibition in AML. Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):539-547. doi: 10.1182/hematology.2019000058

6. Daver N, Schlenk RF, Russell NH, Levis MJ: Targeting FLT3 mutations in AML: review of current knowledge and evidence. Leukemia. 2019 Feb;33(2):299-312. doi: 10.1038/s41375-018-0357-9

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

Next-generation sequencing (NGS) is performed to test for the presence of a mutation in targeted regions in 11 genes. For more information see Targeted Genes Interrogated by Acute Myeloid Leukemia, 11-Gene Panel. This is a laboratory-developed target enriched NGS panel. DNA is extracted from validated specimen sources including peripheral blood and bone marrow. Library preparation for NGS is performed followed by probe hybridization and capture. Sequencing of the final sample library is performed on a NGS instrument. Following bioinformatic processing of the sequencing data, the sequencing results are interpreted to provide a final clinical report. Genomic alterations are called according to human genome reference build GRCh37 (hg19).(Unpublished Mayo method)

 

Genes analyzed: CEBPA, DNMT3A, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, and TP53

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.

16 to 21 days

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

Peripheral blood, bone marrow: 2 weeks; DNA 3 months

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 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.

81450

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
NGAML AML, 11 Gene, NGS, V 105343-8
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.
43554 NGAML Result No LOINC Needed
43488 Pathogenic Mutations Detected 82939-0
43487 Interpretation 69047-9
43489 Clinical Trials 82786-5
43490 Variants of Unknown Significance 93367-1
43491 Additional Notes 48767-8
43492 Method Summary 85069-3
43493 Disclaimer 62364-5
43494 AML Panel Gene List 36908-2
43495 Reviewed By 18771-6
MP038 Specimen Type 31208-2

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