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|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Test Id : NGAMT
Next-Generation Sequencing Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help determine optimal (eg, targeted) therapeutic approaches
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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 4 genes: FLT3, IDH1, IDH2, 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 identifies targets for more accurate therapeutic management of AML.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm
For a list of the genes and exons targeted by this test see Targeted Genes Interrogated by Next-Generation Sequencing, Acute Myeloid Leukemia, Therapeutic, 4-Gene Panel
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
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.
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
Lists a shorter or abbreviated version of the Published Name for a test
AML 4 Gene Panel, Therapeutic
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
FLT3
IDH1
IDH2
Next gen sequencing of leukemia (AML)
Next Gen Sequencing Test
NGS cancer panel, hematologic
NGS hematologic malignancies
Somatic mutation detection by next generation sequencing (NGS), hematologic
TP53
Enasidenib therapy
Midostaurin therapy
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm
For a list of the genes and exons targeted by this test see Targeted Genes Interrogated by Next-Generation Sequencing, Acute Myeloid Leukemia, Therapeutic, 4-Gene Panel
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Varies
Ordering Guidance
This test focuses specifically on the gene mutations that are most utilized for therapeutic management of acute myeloid leukemias (AML) and is a subset of NGSHM / OncoHeme Next-Generation Sequencing for Myeloid Neoplasms, Varies. If a wider gene mutation analysis is desired or the indication is for a myeloid malignancy other than AML, order NGSHM.
Shipping Instructions
Peripheral blood and bone marrow 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 |
|---|---|---|
| MP040 | Specimen Type | |
| NGAID | Diagnosis/Indication |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Submit only 1 of the following specimens:
Specimen Type: Bone marrow aspirate (preferred)
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (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 (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)/Refrigerate/Ambient
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
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
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
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 (preferred) | 14 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help determine optimal (eg, targeted) therapeutic approaches
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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 4 genes: FLT3, IDH1, IDH2, and TP53.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Acute Myeloid Leukemia: Relapsed with Previous Remission Testing Algorithm
For a list of the genes and exons targeted by this test see Targeted Genes Interrogated by Next-Generation Sequencing, Acute Myeloid Leukemia, Therapeutic, 4-Gene Panel
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
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 many genes. 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.
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
Provides information to assist in interpretation of the test results
Mutations (gene alterations) identified, if present, using human reference genome build GRCh37 (hg19). An interpretive report will be provided.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
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 assay that encompasses 4 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 (VAF) near 50% or 100%. If nucleotide alterations in genes associated with germline variant syndromes are present and there is also a strong clinical suspicion or family history of malignant disease predisposition, additional genetic testing and appropriate counseling may be indicated. Mutation cells detected between 5% and 10% VAF may indicate low-level (ie, subclonal) tumor populations, although the clinical significance of these findings may not be clear. 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 undetermined 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 in assigning variant calls correctly to donor and recipient fractions, if pertinent clinical or laboratory information (eg, chimerism engraftment status) is not provided.
Correlation with clinical, histopathologic, and additional laboratory findings is required for final interpretation of these results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
Recommendations for in-depth reading of a clinical nature
1. Patel JP, Levine RL: How do novel molecular genetic markers influence treatment decisions in acute myeloid leukemia?. Hematology Am Soc Hematol Educ Program. 2012;2012:28-34
2. Lindsley RC, Ebert BL: The biology and clinical impact of genetic lesions in myeloid malignancies. Blood. 2013 Nov 28;122(23):3741-3748. doi: 10.1182/blood-2013-06-460295
3. Amatangelo MD, Quek L, Shih A, et al: Enasidenib induces acute myeloid leukemia cell differentiation to promote clinical response. Blood. 2017 Aug 10;130(6):732-741. doi: 10.1182/blood-2017-04-779447
4 Stone RM, Mandrekar SJ, Sanford BL, et al: Midostaurin plus chemotherapy for acute myeloid leukemia with a FLT3 mutation. N Engl J Med. 2017 Aug 3;377(5):454-464. doi: 10.1056/NEJMoa1614359
5 Stein EM, DiNardo CD, Pollyea DA, et al: Enasidenib in mutant IDH2 relapsed or refractory acute myeloid leukemia. Blood. 2017 Aug;130(6):722-731. doi: 10.1182/blood-2017-04-779405
Special Instructions
Library of PDFs including pertinent information and forms related to the test
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
Describes how the test is performed and provides a method-specific reference
Next-generation sequencing is performed for the presence of a mutation in targeted regions of the following 4 genes: FLT3, IDH1, IDH2, and TP53. See Targeted Genes Interrogated by Next-Generation Sequencing, Acute Myeloid Leukemia, Therapeutic, 4-Gene Panel for details regarding the targeted gene regions identified in this test. This is a laboratory-developed test using research use only reagents. Extracted DNA from the clinical specimen is fragmented, adapter ligated, and a sequence library of fragments is prepared using a custom capture hybridization method. Individual patient samples are indexed ("bar-coded") for identification and the library is sequenced on an Illumina platform. Sequence data are processed through a bioinformatics pipeline and a variant call file is generated for final analysis and reporting.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
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.
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, Wednesday
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.
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.
14 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
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
DNA: 3 Months
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
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.
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.
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.
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.
CPT codes are provided by the performing laboratory.
81120
81121
81245
81246
81352
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.
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 |
|---|---|---|
| NGAMT | AML 4 Gene Panel, Therapeutic | In Process |
| 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.
|
|---|---|---|
| MP040 | Specimen Type | 31208-2 |
| NGAID | Diagnosis/Indication | 29308-4 |
| 601698 | NGAMT Result | No LOINC Needed |
| 601700 | Pathogenic Mutations Detected | 82939-0 |
| 601699 | Interpretation | 69047-9 |
| 601701 | Clinical Trials | 82786-5 |
| 601702 | Variants of Unknown Signficance | 93367-1 |
| 601703 | Additional Notes | 48767-8 |
| 601704 | Method Summary | 85069-3 |
| 601705 | Disclaimer | 62364-5 |
| 601706 | AML 4 Gene Panel Gene List | 36908-2 |
| 601707 | Reviewed 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.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
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.
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.